14-31647502-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31647502
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31647502
    reference: chr 14
allele count: 157
allele frequency: 1.491686460807601e-3
allele num: 105250
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.141-42A>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.141-42A>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.381-42A>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.141-42A>G
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16833
  bin: 1.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 2.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20086
  bin: 1.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 2.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5431
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8739
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9267
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16748
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 9.75e1
  variant carriers: 147
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 6.75e1
  variant carriers: 3
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-31647511-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31647511
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31647511
    reference: chr 14
allele count: 3
allele frequency: 3.197135366711427e-5
allele num: 93834
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.141-51G>C
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.381-51G>C
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.141-51G>C
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.141-51G>C
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18226
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15847
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9090
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10996
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4283
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2911
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5267
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5301
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2426
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2333
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8912
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7090
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

14-31674953-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31674953
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31674951
    reference: chr 14
allele count: 1
allele frequency: 8.355335717389125e-6
allele num: 119684
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.140+48_140+49delCT
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.140+48_140+49delCT
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.480+48_480+49delCT
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.380+48_380+49delCT
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.140+48_140+49delCT
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5543
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30461
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: CAG
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

14-31674958-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31674958
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31674958
    reference: chr 14
allele count: 1
allele frequency: 8.345155637152633e-6
allele num: 119830
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.140+45C>T
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.140+45C>T
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.480+45C>T
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.140+45C>T
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.380+45C>T
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3191
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2774
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

14-31674961-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31674961
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31674961
    reference: chr 14
allele count: 1
allele frequency: 8.342370901810295e-6
allele num: 119870
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.140+42T>C
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.380+42T>C
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.140+42T>C
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.140+42T>C
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.480+42T>C
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15267
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

14-31674963-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31674963
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31674963
    reference: chr 14
allele count: 11
allele frequency: 9.174771047758853e-5
allele num: 119894
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.140+40A>T
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.140+40A>T
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.140+40A>T
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.380+40A>T
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.480+40A>T
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5538
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31614
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

14-31674967-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31674967
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31674967
    reference: chr 14
allele count: 3
allele frequency: 2.501626056937009e-5
allele num: 119922
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.140+36C>T
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.480+36C>T
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.380+36C>T
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.140+36C>T
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.140+36C>T
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10575
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31996
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/14-31674972-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31674972
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31674972
    reference: chr 14
allele count: 1
allele frequency: 8.337502084375522e-6
allele num: 119940
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.140+31G>T
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.140+31G>T
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.380+31G>T
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.140+31G>T
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.480+31G>T
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32561
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

14-31674978-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31674978
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31674978
    reference: chr 14
allele count: 1
allele frequency: 8.325008325008325e-6
allele num: 120120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.480+25C>T
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.140+25C>T
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.380+25C>T
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.140+25C>T
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.140+25C>T
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2778
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10649
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33144
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5522
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP

14-31674980-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31674980
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31674980
    reference: chr 14
allele count: 1
allele frequency: 8.320021299254527e-6
allele num: 120192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.140+23T>C
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.140+23T>C
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.380+23T>C
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.480+23T>C
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.140+23T>C
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3185
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5521
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10670
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

14-31674996-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31674996
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31674996
    reference: chr 14
allele count: 1
allele frequency: 8.29655195300833e-6
allele num: 120532
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.480+7A>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.380+7A>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.140+7A>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.140+7A>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.140+7A>G
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10719
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34212
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
hgvs: c.140+7A>G
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/14-31675009-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31675009
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31675009
    reference: chr 14
allele count: 1
allele frequency: 8.286239870071759e-6
allele num: 120682
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.134T>G
  hgvsp: ENSP00000450697.1:p.Phe45Cys
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.374T>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.134T>G
  hgvsp: ENSP00000382269.1:p.Phe45Cys
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.134T>G
  hgvsp: ENSP00000452015.1:p.Phe45Cys
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.474T>G
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2793
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe45Cys
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

14-31675030-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31675030
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31675030
    reference: chr 14
allele count: 1
allele frequency: 8.281985026171072e-6
allele num: 120744
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.113C>G
  hgvsp: ENSP00000452015.1:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.453C>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.353C>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.113C>G
  hgvsp: ENSP00000382269.1:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.113C>G
  hgvsp: ENSP00000450697.1:p.Ser38Cys
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5516
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser38Cys
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

14-31675034-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31675034
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31675034
    reference: chr 14
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.109A>G
  hgvsp: ENSP00000452015.1:p.Met37Val
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.349A>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.109A>G
  hgvsp: ENSP00000450697.1:p.Met37Val
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.449A>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.109A>G
  hgvsp: ENSP00000382269.1:p.Met37Val
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10755
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34568
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met37Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

14-31675050-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31675050
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31675050
    reference: chr 14
allele count: 4
allele frequency: 3.312300226892566e-5
allele num: 120762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.333A>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.93A>G
  hgvsp: ENST00000399332.1:c.93A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.93A>G
  hgvsp: ENST00000553700.1:c.93A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.93A>G
  hgvsp: ENST00000556224.1:c.93A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.433A>G
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3190
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10750
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5515
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Leu31Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

14-31675059-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31675059
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31675059
    reference: chr 14
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.84T>C
  hgvsp: ENST00000556224.1:c.84T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.424T>C
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.84T>C
  hgvsp: ENST00000399332.1:c.84T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.84T>C
  hgvsp: ENST00000553700.1:c.84T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.324T>C
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3189
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10748
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu28Leu
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

14-31675063-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31675063
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31675063
    reference: chr 14
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.420C>T
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.80C>T
  hgvsp: ENSP00000382269.1:p.Ala27Val
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.80C>T
  hgvsp: ENSP00000450697.1:p.Ala27Val
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.80C>T
  hgvsp: ENSP00000452015.1:p.Ala27Val
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.320C>T
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2787
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10748
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala27Val
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/14-31675064-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31675064
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31675064
    reference: chr 14
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.79G>T
  hgvsp: ENSP00000452015.1:p.Ala27Ser
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.319G>T
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.79G>T
  hgvsp: ENSP00000450697.1:p.Ala27Ser
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.419G>T
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.79G>T
  hgvsp: ENSP00000382269.1:p.Ala27Ser
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10747
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5510
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34583
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala27Ser
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

14-31675071-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31675071
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31675071
    reference: chr 14
allele count: 2
allele frequency: 1.656095258599275e-5
allele num: 120766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.312A>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.72A>G
  hgvsp: ENST00000556224.1:c.72A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.72A>G
  hgvsp: ENST00000553700.1:c.72A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.72A>G
  hgvsp: ENST00000399332.1:c.72A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.412A>G
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34595
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln24Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: T
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS

14-31675073-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31675073
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31675073
    reference: chr 14
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.70C>G
  hgvsp: ENSP00000382269.1:p.Gln24Glu
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.70C>G
  hgvsp: ENSP00000452015.1:p.Gln24Glu
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.310C>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.70C>G
  hgvsp: ENSP00000450697.1:p.Gln24Glu
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.410C>G
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5508
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10745
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34596
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln24Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

14-31675096-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31675096
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31675096
    reference: chr 14
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.287G>A
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.387G>A
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.47G>A
  hgvsp: ENSP00000450697.1:p.Gly16Glu
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.47G>A
  hgvsp: ENSP00000452015.1:p.Gly16Glu
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.47G>A
  hgvsp: ENSP00000382269.1:p.Gly16Glu
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34596
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10740
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5503
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly16Glu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/14-31675101-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31675101
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31675101
    reference: chr 14
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.382G>T
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.42G>T
  hgvsp: ENSP00000382269.1:p.Gln14His
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.42G>T
  hgvsp: ENSP00000450697.1:p.Gln14His
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.42G>T
  hgvsp: ENSP00000452015.1:p.Gln14His
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.282G>T
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24348
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5501
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10743
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1883
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln14His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

14-31675104-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31675104
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31675104
    reference: chr 14
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.279A>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.39A>G
  hgvsp: ENST00000556224.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.39A>G
  hgvsp: ENST00000399332.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.39A>G
  hgvsp: ENST00000553700.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.379A>G
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34622
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5495
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu13Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

14-31675113-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31675113
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31675113
    reference: chr 14
allele count: 1
allele frequency: 8.282122210995345e-6
allele num: 120742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.30G>A
  hgvsp: ENST00000553700.1:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.370G>A
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.30G>A
  hgvsp: ENST00000556224.1:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.30G>A
  hgvsp: ENST00000399332.1:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.270G>A
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2778
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10739
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34619
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu10Leu
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

14-31675115-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31675115
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31675115
    reference: chr 14
allele count: 1
allele frequency: 8.28225940036442e-6
allele num: 120740
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.28C>T
  hgvsp: ENST00000399332.1:c.28C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.28C>T
  hgvsp: ENST00000556224.1:c.28C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.368C>T
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.28C>T
  hgvsp: ENST00000553700.1:c.28C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.268C>T
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10737
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu10Leu
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-31675116-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31675116
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31675116
    reference: chr 14
allele count: 1
allele frequency: 8.28225940036442e-6
allele num: 120740
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.27G>T
  hgvsp: ENSP00000382269.1:p.Leu9Phe
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.27G>T
  hgvsp: ENSP00000452015.1:p.Leu9Phe
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.27G>T
  hgvsp: ENSP00000450697.1:p.Leu9Phe
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.367G>T
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.267G>T
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15405
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34616
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10738
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5491
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu9Phe
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

14-31675133-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31675133
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31675133
    reference: chr 14
allele count: 1
allele frequency: 8.285965232089886e-6
allele num: 120686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.350G>A
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.10G>A
  hgvsp: ENSP00000382269.1:p.Val4Met
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.10G>A
  hgvsp: ENSP00000452015.1:p.Val4Met
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.10G>A
  hgvsp: ENSP00000450697.1:p.Val4Met
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.250G>A
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10732
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5481
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2764
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val4Met
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/14-31675153-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31675153
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31675153
    reference: chr 14
allele count: 2
allele frequency: 1.661295145695584e-5
allele num: 120388
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.-11T>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.330T>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.-11T>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.230T>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.-11T>G
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10638
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3133
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD

14-31675160-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31675160
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31675160
    reference: chr 14
allele count: 3
allele frequency: 2.501083802981292e-5
allele num: 119948
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.-18A>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.-18A>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.323A>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.223A>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.-18A>G
  variant of: http://identifiers.org/hgnc/20157
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31804
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9946
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

14-31675179-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31675179
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31675179
    reference: chr 14
allele count: 2
allele frequency: 1.67319211591875e-5
allele num: 119532
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.204A>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.320-16A>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.-21-16A>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.-21-16A>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.-21-16A>G
  variant of: http://identifiers.org/hgnc/20157
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7614
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2678
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3678
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23689
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 18
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8717
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

14-31675182-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31675182
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31675182
    reference: chr 14
allele count: 1
allele frequency: 8.379841453399702e-6
allele num: 119334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.201T>A
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.320-19T>A
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.-21-19T>A
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.-21-19T>A
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.-21-19T>A
  variant of: http://identifiers.org/hgnc/20157
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3803
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

14-31675187-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31675187
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31675187
    reference: chr 14
allele count: 1
allele frequency: 8.4071763657458e-6
allele num: 118946
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000452015
  ensembl transcript: ENST00000556224
  gene symbol: HECTD1
  hgvsc: ENST00000556224.1:c.-21-24C>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000450697
  ensembl transcript: ENST00000553700
  gene symbol: HECTD1
  hgvsc: ENST00000553700.1:c.-21-24C>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000553616
  gene symbol: HECTD1
  hgvsc: ENST00000553616.1:n.196C>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl transcript: ENST00000556474
  gene symbol: HECTD1
  hgvsc: ENST00000556474.1:n.320-24C>G
  variant of: http://identifiers.org/hgnc/20157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092148
  ensembl protein: ENSP00000382269
  ensembl transcript: ENST00000399332
  gene symbol: HECTD1
  hgvsc: ENST00000399332.1:c.-21-24C>G
  variant of: http://identifiers.org/hgnc/20157
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9890
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5335
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3795
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16684
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5022
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

14-31762466-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762466
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762466
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 109294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2379A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.*45A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.*45A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.*45A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.*45A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.*45A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2172T>C
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

14-31762467-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762467
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762467
    reference: chr 14
allele count: 1
allele frequency: 9.151307721873456e-6
allele num: 109274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.*44G>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.*44G>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.*44G>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2378G>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2171C>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.*44G>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.*44G>C
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2752
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17364
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2648
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18116
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

14-31762470-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762470
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762470
    reference: chr 14
allele count: 1
allele frequency: 9.142104878227163e-6
allele num: 109384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.*41C>T
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.*41C>T
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2375C>T
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2168G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.*41C>T
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.*41C>T
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.*41C>T
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18128
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

14-31762482-T-TGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762482
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762484
    reference: chr 14
allele count: 7
allele frequency: 6.366646050860407e-5
allele num: 109948
alternate allele: TGC
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.*28_*29insGC
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.*28_*29insGC
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.*28_*29insGC
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.*28_*29insGC
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.*28_*29insGC
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2362_2363insGC
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2156_401-2155insGC
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14014
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18143
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3692
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/14-31762500-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762500
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762500
    reference: chr 14
allele count: 1
allele frequency: 1.128464385663988e-5
allele num: 88616
alternate allele: A
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4524
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9881
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15975
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6452
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8622
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7778
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8058
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/14-31762500-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762500
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762501
    reference: chr 14
allele count: 1593
allele frequency: 1.797643766362734e-2
allele num: 88616
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.*10dupT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.*10dupT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.*10dupT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2128dupA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.*10dupT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2344dupT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.*10dupT
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 1.75e1
  variant carriers: 212
genotype depth: GenotypeDepth
  all individuals: 5381
  bin: 3.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 6.25e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 4.25e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 4.75e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 1.25e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 2.25e1
  variant carriers: 165
genotype depth: GenotypeDepth
  all individuals: 10121
  bin: 2.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 6.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 3.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 5.75e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 9.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 4524
  bin: 9.75e1
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 8.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 7.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 7.25e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 5.25e1
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 8.75e1
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 7.5e0
  variant carriers: 151
genotype quality: GenotypeQuality
  all individuals: 9881
  bin: 2.5e0
  variant carriers: 97
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 5.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 2.75e1
  variant carriers: 106
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 3.75e1
  variant carriers: 107
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 3.25e1
  variant carriers: 97
genotype quality: GenotypeQuality
  all individuals: 3102
  bin: 6.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 4.25e1
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 1.25e1
  variant carriers: 120
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 9.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 6452
  bin: 9.75e1
  variant carriers: 732
num of homozygotes: 14
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/14-31762500-C-CAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762500
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762502
    reference: chr 14
allele count: 14
allele frequency: 1.579850139929584e-4
allele num: 88616
alternate allele: CAA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.*9_*10dupTT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.*9_*10dupTT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2343_2344dupTT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.*9_*10dupTT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.*9_*10dupTT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2129_401-2128dupAA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.*9_*10dupTT
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10121
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5381
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4524
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 15975
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/14-31762500-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762500
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762499
    reference: chr 14
allele count: 1137
allele frequency: 1.283064006499955e-2
allele num: 88616
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.*10delT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2344delT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2128delA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.*10delT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.*10delT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.*10delT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.*10delT
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10121
  bin: 2.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 7.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 6.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 6.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 2.25e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 1.75e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 5381
  bin: 3.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 3.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 5.25e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 8.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 5.75e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 1.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 4.25e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 7.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 4.75e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 8.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 4524
  bin: 9.75e1
  variant carriers: 372
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 9.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 1.75e1
  variant carriers: 99
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 3.25e1
  variant carriers: 87
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 7.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 5.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 9881
  bin: 2.5e0
  variant carriers: 107
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 7.5e0
  variant carriers: 104
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 8.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 1.25e1
  variant carriers: 125
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 7.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 3102
  bin: 6.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 4.75e1
  variant carriers: 59
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: CA
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

14-31762506-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762506
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762506
    reference: chr 14
allele count: 1
allele frequency: 8.479894170920747e-6
allele num: 117926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.*5T>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.*5T>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.*5T>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2339T>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.*5T>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.*5T>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2132A>G
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6337
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/14-31762513-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762513
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762513
    reference: chr 14
allele count: 1
allele frequency: 8.448514751106756e-6
allele num: 118364
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2125A>C
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.5896T>G
  hgvsp: ENSP00000405407.1:p.Ter1966GlyextTer15
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.6139T>G
  hgvsp: ENSP00000437968.2:p.Ter2047GlyextTer15
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.4797T>G
  hgvsp: ENSP00000439979.2:p.Ter1600GlyextTer15
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2332T>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.6121T>G
  hgvsp: ENSP00000374611.3:p.Ter2041GlyextTer15
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.5260T>G
  hgvsp: ENSP00000408681.1:p.Ter1754GlyextTer15
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4245
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6374
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ter2041GlyextTer15
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-31762518-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762518
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762518
    reference: chr 14
allele count: 3
allele frequency: 2.525932911221878e-5
allele num: 118768
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.5255T>A
  hgvsp: ENSP00000408681.1:p.Phe1752Tyr
  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.6116T>A
  hgvsp: ENSP00000374611.3:p.Phe2039Tyr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2120A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.5891T>A
  hgvsp: ENSP00000405407.1:p.Phe1964Tyr
  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.6134T>A
  hgvsp: ENSP00000437968.2:p.Phe2045Tyr
  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.4792T>A
  hgvsp: ENSP00000439979.2:p.Phe1598Tyr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2327T>A
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4249
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe2039Tyr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

14-31762521-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762521
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762521
    reference: chr 14
allele count: 2
allele frequency: 1.681661481543765e-5
allele num: 118930
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.6131G>A
  hgvsp: ENSP00000437968.2:p.Ser2044Asn
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2324G>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2117C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.5252G>A
  hgvsp: ENSP00000408681.1:p.Ser1751Asn
  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.4789G>A
  hgvsp: ENSP00000439979.2:p.Ser1597Asn
  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.6113G>A
  hgvsp: ENSP00000374611.3:p.Ser2038Asn
  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.5888G>A
  hgvsp: ENSP00000405407.1:p.Ser1963Asn
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25989
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43338
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4249
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6409
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser2038Asn
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

14-31762523-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762523
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762523
    reference: chr 14
allele count: 2
allele frequency: 1.678838243935197e-5
allele num: 119130
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.6111C>G
  hgvsp: ENST00000389961.3:c.6111C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2322C>G
  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.5886C>G
  hgvsp: ENST00000439348.1:c.5886C>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.5250C>G
  hgvsp: ENST00000439727.1:c.5250C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2115G>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.4787C>G
  hgvsp: ENST00000538864.2:c.4787C>G(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.6129C>G
  hgvsp: ENST00000543095.2:c.6129C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11948
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6439
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr2037Thr
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-31762524-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762524
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762524
    reference: chr 14
allele count: 1
allele frequency: 8.389120987902887e-6
allele num: 119202
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.5249C>A
  hgvsp: ENSP00000408681.1:p.Thr1750Asn
  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.6110C>A
  hgvsp: ENSP00000374611.3:p.Thr2037Asn
  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.5885C>A
  hgvsp: ENSP00000405407.1:p.Thr1962Asn
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2321C>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2114G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.6128C>A
  hgvsp: ENSP00000437968.2:p.Thr2043Asn
  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.4786C>A
  hgvsp: ENSP00000439979.2:p.Thr1596Asn
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12030
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43780
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4248
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr2037Asn
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

14-31762526-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762526
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762525
    reference: chr 14
allele count: 2
allele frequency: 1.675743611227482e-5
allele num: 119350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.5246delA
  hgvsp: ENSP00000408681.1:p.Lys1749ArgfsTer17
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2318delA
  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.4783delA
  hgvsp: ENSP00000439979.2:p.Lys1595ArgfsTer17
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.6107delA
  hgvsp: ENSP00000374611.3:p.Lys2036ArgfsTer17
  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.5882delA
  hgvsp: ENSP00000405407.1:p.Lys1961ArgfsTer17
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2109delT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.6125delA
  hgvsp: ENSP00000437968.2:p.Lys2042ArgfsTer17
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26197
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys2036ArgfsTer17
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: CT
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

14-31762529-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762529
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762529
    reference: chr 14
allele count: 2
allele frequency: 1.672996168838773e-5
allele num: 119546
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.4781A>G
  hgvsp: ENST00000538864.2:c.4781A>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.5880A>G
  hgvsp: ENST00000439348.1:c.5880A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2109T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.6123A>G
  hgvsp: ENST00000543095.2:c.6123A>G(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.6105A>G
  hgvsp: ENST00000389961.3:c.6105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2316A>G
  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.5244A>G
  hgvsp: ENST00000439727.1:c.5244A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6478
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu2035Leu
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

14-31762544-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762544
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762543
    reference: chr 14
allele count: 61
allele frequency: 5.068550062318238e-4
allele num: 120350
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.6089delA
  hgvsp: ENSP00000374611.3:p.Asn2030ThrfsTer6
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2088delT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.6107delA
  hgvsp: ENSP00000437968.2:p.Asn2036ThrfsTer6
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2300delA
  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.4765delA
  hgvsp: ENSP00000439979.2:p.Asn1589ThrfsTer6
  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.5864delA
  hgvsp: ENSP00000405407.1:p.Asn1955ThrfsTer6
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.5228delA
  hgvsp: ENSP00000408681.1:p.Asn1743ThrfsTer6
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 26557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12736
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45024
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn2030ThrfsTer6
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: GT
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ

14-31762548-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762548
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762548
    reference: chr 14
allele count: 1
allele frequency: 8.302889405513118e-6
allele num: 120440
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.6104A>G
  hgvsp: ENSP00000437968.2:p.Lys2035Arg
  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.5861A>G
  hgvsp: ENSP00000405407.1:p.Lys1954Arg
  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.6086A>G
  hgvsp: ENSP00000374611.3:p.Lys2029Arg
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2297A>G
  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.4762A>G
  hgvsp: ENSP00000439979.2:p.Lys1588Arg
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2090T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.5225A>G
  hgvsp: ENSP00000408681.1:p.Lys1742Arg
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45131
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys2029Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

14-31762549-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762549
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762549
    reference: chr 14
allele count: 1
allele frequency: 8.301924386072691e-6
allele num: 120454
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.5860A>G
  hgvsp: ENSP00000405407.1:p.Lys1954Glu
  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.6085A>G
  hgvsp: ENSP00000374611.3:p.Lys2029Glu
  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.5224A>G
  hgvsp: ENSP00000408681.1:p.Lys1742Glu
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2296A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2089T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.4761A>G
  hgvsp: ENSP00000439979.2:p.Lys1588Glu
  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.6103A>G
  hgvsp: ENSP00000437968.2:p.Lys2035Glu
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys2029Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/14-31762552-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762552
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762552
    reference: chr 14
allele count: 3
allele frequency: 2.489626556016598e-5
allele num: 120500
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.5857G>T
  hgvsp: ENSP00000405407.1:p.Gly1953Ter
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.4758G>T
  hgvsp: ENSP00000439979.2:p.Gly1587Ter
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2086C>A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.5221G>T
  hgvsp: ENSP00000408681.1:p.Gly1741Ter
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.6082G>T
  hgvsp: ENSP00000374611.3:p.Gly2028Ter
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.6100G>T
  hgvsp: ENSP00000437968.2:p.Gly2034Ter
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2293G>T
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45190
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly2028Ter
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

14-31762553-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762553
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762553
    reference: chr 14
allele count: 2
allele frequency: 1.659613310098747e-5
allele num: 120510
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.6081T>A
  hgvsp: ENST00000389961.3:c.6081T>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.5220T>A
  hgvsp: ENST00000439727.1:c.5220T>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.4757T>A
  hgvsp: ENST00000538864.2:c.4757T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2085A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2292T>A
  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.6099T>A
  hgvsp: ENST00000543095.2:c.6099T>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.5856T>A
  hgvsp: ENST00000439348.1:c.5856T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45195
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4219
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro2027Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

14-31762555-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762555
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762555
    reference: chr 14
allele count: 1
allele frequency: 8.295037908323241e-6
allele num: 120554
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2083G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.5854C>G
  hgvsp: ENSP00000405407.1:p.Pro1952Ala
  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.5218C>G
  hgvsp: ENSP00000408681.1:p.Pro1740Ala
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2290C>G
  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.6097C>G
  hgvsp: ENSP00000437968.2:p.Pro2033Ala
  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.4755C>G
  hgvsp: ENSP00000439979.2:p.Pro1586Ala
  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.6079C>G
  hgvsp: ENSP00000374611.3:p.Pro2027Ala
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6567
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45280
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro2027Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

14-31762557-C-CTCTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762557
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762561
    reference: chr 14
allele count: 4
allele frequency: 3.317629885210006e-5
allele num: 120568
alternate allele: CTCTT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.5212_5215dupAAGA
  hgvsp: ENSP00000408681.1:p.Ser1739LysfsTer23
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2080_401-2077dupTCTT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.6091_6094dupAAGA
  hgvsp: ENSP00000437968.2:p.Ser2032LysfsTer23
  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.4749_4752dupAAGA
  hgvsp: ENSP00000439979.2:p.Ser1585LysfsTer23
  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.5848_5851dupAAGA
  hgvsp: ENSP00000405407.1:p.Ser1951LysfsTer23
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.6073_6076dupAAGA
  hgvsp: ENSP00000374611.3:p.Ser2026LysfsTer23
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2284_2287dupAAGA
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6564
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4221
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser2026LysfsTer23
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

14-31762559-C-CTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762559
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762561
    reference: chr 14
allele count: 1
allele frequency: 8.29324929507381e-6
allele num: 120580
alternate allele: CTT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.6073_6074dupAA
  hgvsp: ENSP00000374611.3:p.Ser2026ArgfsTer11
  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.5848_5849dupAA
  hgvsp: ENSP00000405407.1:p.Ser1951ArgfsTer11
  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.6091_6092dupAA
  hgvsp: ENSP00000437968.2:p.Ser2032ArgfsTer11
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.5212_5213dupAA
  hgvsp: ENSP00000408681.1:p.Ser1739ArgfsTer11
  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.4749_4750dupAA
  hgvsp: ENSP00000439979.2:p.Ser1585ArgfsTer11
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2284_2285dupAA
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2078_401-2077dupTT
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6566
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser2026ArgfsTer11
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

14-31762562-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762562
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762562
    reference: chr 14
allele count: 1
allele frequency: 8.29132395860971e-6
allele num: 120608
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2283T>C
  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.6090T>C
  hgvsp: ENST00000543095.2:c.6090T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2076A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.4748T>C
  hgvsp: ENST00000538864.2:c.4748T>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.5211T>C
  hgvsp: ENST00000439727.1:c.5211T>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.5847T>C
  hgvsp: ENST00000439348.1:c.5847T>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.6072T>C
  hgvsp: ENST00000389961.3:c.6072T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6570
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr2024Thr
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

14-31762568-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762568
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762568
    reference: chr 14
allele count: 14
allele frequency: 1.160169716255635e-4
allele num: 120672
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.4742A>G
  hgvsp: ENST00000538864.2:c.4742A>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.5841A>G
  hgvsp: ENST00000439348.1:c.5841A>G(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.6084A>G
  hgvsp: ENST00000543095.2:c.6084A>G(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.6066A>G
  hgvsp: ENST00000389961.3:c.6066A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2277A>G
  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.5205A>G
  hgvsp: ENST00000439727.1:c.5205A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2070T>C
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45383
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6568
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys2022Lys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/14-31762573-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762573
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762573
    reference: chr 14
allele count: 1
allele frequency: 8.285141427364165e-6
allele num: 120698
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2065A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2272T>G
  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.6079T>G
  hgvsp: ENSP00000437968.2:p.Ser2027Ala
  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.5200T>G
  hgvsp: ENSP00000408681.1:p.Ser1734Ala
  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.4737T>G
  hgvsp: ENSP00000439979.2:p.Ser1580Ala
  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.5836T>G
  hgvsp: ENSP00000405407.1:p.Ser1946Ala
  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.6061T>G
  hgvsp: ENSP00000374611.3:p.Ser2021Ala
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45433
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser2021Ala
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

14-31762574-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762574
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762574
    reference: chr 14
allele count: 1
allele frequency: 8.2847295864263e-6
allele num: 120704
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.5835A>G
  hgvsp: ENST00000439348.1:c.5835A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2064T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.6078A>G
  hgvsp: ENST00000543095.2:c.6078A>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.4736A>G
  hgvsp: ENST00000538864.2:c.4736A>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.5199A>G
  hgvsp: ENST00000439727.1:c.5199A>G(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.6060A>G
  hgvsp: ENST00000389961.3:c.6060A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2271A>G
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4212
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr2020Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

14-31762582-TCTTGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762582
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762577
    reference: chr 14
allele count: 1
allele frequency: 8.28225940036442e-6
allele num: 120740
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.6047_6051delTCAAG
  hgvsp: ENSP00000374611.3:p.Val2016AspfsTer5
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2258_2262delTCAAG
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.5186_5190delTCAAG
  hgvsp: ENSP00000408681.1:p.Val1729AspfsTer5
  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.4723_4727delTCAAG
  hgvsp: ENSP00000439979.2:p.Val1575AspfsTer5
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2052_401-2048delGACTT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.6065_6069delTCAAG
  hgvsp: ENSP00000437968.2:p.Val2022AspfsTer5
  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.5822_5826delTCAAG
  hgvsp: ENSP00000405407.1:p.Val1941AspfsTer5
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val2016AspfsTer5
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: TCTTGA
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-31762583-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762583
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762583
    reference: chr 14
allele count: 6
allele frequency: 4.969191015702644e-5
allele num: 120744
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.5190G>T
  hgvsp: ENSP00000408681.1:p.Lys1730Asn
  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.5826G>T
  hgvsp: ENSP00000405407.1:p.Lys1942Asn
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2262G>T
  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.6069G>T
  hgvsp: ENSP00000437968.2:p.Lys2023Asn
  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.4727G>T
  hgvsp: ENSP00000439979.2:p.Lys1576Asn
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2055C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.6051G>T
  hgvsp: ENSP00000374611.3:p.Lys2017Asn
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4213
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Lys2017Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ

14-31762583-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762583
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762583
    reference: chr 14
allele count: 1
allele frequency: 8.281985026171072e-6
allele num: 120744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2262G>A
  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.5190G>A
  hgvsp: ENST00000439727.1:c.5190G>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.5826G>A
  hgvsp: ENST00000439348.1:c.5826G>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.6069G>A
  hgvsp: ENST00000543095.2:c.6069G>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.6051G>A
  hgvsp: ENST00000389961.3:c.6051G>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.4727G>A
  hgvsp: ENST00000538864.2:c.4727G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2055C>T
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys2017Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-31762605-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762605
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762605
    reference: chr 14
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
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.6047A>G
  hgvsp: ENSP00000437968.2:p.Asn2016Ser
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2240A>G
  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.5168A>G
  hgvsp: ENSP00000408681.1:p.Asn1723Ser
  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.5804A>G
  hgvsp: ENSP00000405407.1:p.Asn1935Ser
  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.4705A>G
  hgvsp: ENSP00000439979.2:p.Asn1569Ser
  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.6029A>G
  hgvsp: ENSP00000374611.3:p.Asn2010Ser
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2033T>C
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4206
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn2010Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

14-31762612-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762612
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762612
    reference: chr 14
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
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.5797A>G
  hgvsp: ENSP00000405407.1:p.Lys1933Glu
  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.4698A>G
  hgvsp: ENSP00000439979.2:p.Lys1567Glu
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2233A>G
  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.5161A>G
  hgvsp: ENSP00000408681.1:p.Lys1721Glu
  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.6040A>G
  hgvsp: ENSP00000437968.2:p.Lys2014Glu
  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.6022A>G
  hgvsp: ENSP00000374611.3:p.Lys2008Glu
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2026T>C
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys2008Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

14-31762626-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762626
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762626
    reference: chr 14
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
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.5783T>A
  hgvsp: ENSP00000405407.1:p.Leu1928His
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2219T>A
  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.4684T>A
  hgvsp: ENSP00000439979.2:p.Leu1562His
  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.6026T>A
  hgvsp: ENSP00000437968.2:p.Leu2009His
  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.5147T>A
  hgvsp: ENSP00000408681.1:p.Leu1716His
  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.6008T>A
  hgvsp: ENSP00000374611.3:p.Leu2003His
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2012A>T
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6584
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4206
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu2003His
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

14-31762629-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762629
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762629
    reference: chr 14
allele count: 6
allele frequency: 4.968450340338848e-5
allele num: 120762
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.6023G>A
  hgvsp: ENSP00000437968.2:p.Arg2008His
  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.4681G>A
  hgvsp: ENSP00000439979.2:p.Arg1561His
  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.5144G>A
  hgvsp: ENSP00000408681.1:p.Arg1715His
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2216G>A
  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.6005G>A
  hgvsp: ENSP00000374611.3:p.Arg2002His
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2009C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.5780G>A
  hgvsp: ENSP00000405407.1:p.Arg1927His
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg2002His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

14-31762630-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762630
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762630
    reference: chr 14
allele count: 3
allele frequency: 2.484225170169424e-5
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2008G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.4680C>T
  hgvsp: ENSP00000439979.2:p.Arg1561Cys
  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.5143C>T
  hgvsp: ENSP00000408681.1:p.Arg1715Cys
  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.6022C>T
  hgvsp: ENSP00000437968.2:p.Arg2008Cys
  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.5779C>T
  hgvsp: ENSP00000405407.1:p.Arg1927Cys
  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.6004C>T
  hgvsp: ENSP00000374611.3:p.Arg2002Cys
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2215C>T
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg2002Cys
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

14-31762633-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762633
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762633
    reference: chr 14
allele count: 2
allele frequency: 1.656561640658649e-5
allele num: 120732
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.5140G>A
  hgvsp: ENSP00000408681.1:p.Ala1714Thr
  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.6001G>A
  hgvsp: ENSP00000374611.3:p.Ala2001Thr
  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.6019G>A
  hgvsp: ENSP00000437968.2:p.Ala2007Thr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2212G>A
  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.4677G>A
  hgvsp: ENSP00000439979.2:p.Ala1560Thr
  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.5776G>A
  hgvsp: ENSP00000405407.1:p.Ala1926Thr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2005C>T
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4182
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6580
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala2001Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-31762635-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762635
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762635
    reference: chr 14
allele count: 56
allele frequency: 4.637220317649592e-4
allele num: 120762
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.6017A>G
  hgvsp: ENSP00000437968.2:p.Lys2006Arg
  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.5138A>G
  hgvsp: ENSP00000408681.1:p.Lys1713Arg
  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.4675A>G
  hgvsp: ENSP00000439979.2:p.Lys1559Arg
  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.5999A>G
  hgvsp: ENSP00000374611.3:p.Lys2000Arg
  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.5774A>G
  hgvsp: ENSP00000405407.1:p.Lys1925Arg
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2210A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2003T>C
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12922
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 9.75e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45455
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys2000Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

14-31762637-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762637
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762637
    reference: chr 14
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.5136A>T
  hgvsp: ENST00000439727.1:c.5136A>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.5772A>T
  hgvsp: ENST00000439348.1:c.5772A>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.4673A>T
  hgvsp: ENST00000538864.2:c.4673A>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.6015A>T
  hgvsp: ENST00000543095.2:c.6015A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-2001T>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.5997A>T
  hgvsp: ENST00000389961.3:c.5997A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2208A>T
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu1999Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: DP

14-31762642-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762642
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762642
    reference: chr 14
allele count: 2
allele frequency: 1.656177542232527e-5
allele num: 120760
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.6010G>C
  hgvsp: ENSP00000437968.2:p.Ala2004Pro
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-1996C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.5992G>C
  hgvsp: ENSP00000374611.3:p.Ala1998Pro
  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.5131G>C
  hgvsp: ENSP00000408681.1:p.Ala1711Pro
  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.5767G>C
  hgvsp: ENSP00000405407.1:p.Ala1923Pro
  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.4668G>C
  hgvsp: ENSP00000439979.2:p.Ala1557Pro
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2203G>C
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala1998Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: DP

14-31762642-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31762642
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31762642
    reference: chr 14
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
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.5992G>A
  hgvsp: ENSP00000374611.3:p.Ala1998Thr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129493
  ensembl transcript: ENST00000551414
  gene symbol: HEATR5A
  hgvsc: ENST00000551414.1:n.2203G>A
  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.6010G>A
  hgvsp: ENSP00000437968.2:p.Ala2004Thr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257831
  ensembl transcript: ENST00000551799
  gene symbol: RP11-596D21.1
  hgvsc: ENST00000551799.1:n.401-1996C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.4668G>A
  hgvsp: ENSP00000439979.2:p.Ala1557Thr
  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.5767G>A
  hgvsp: ENSP00000405407.1:p.Ala1923Thr
  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.5131G>A
  hgvsp: ENSP00000408681.1:p.Ala1711Thr
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala1998Thr
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 6238
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 7.75e1
variant carriers: 2

South Asian
type: Population
allele count: 19
allele frequency: 1.352313167259786e-3
allele num: 14050
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.034910997654202e-4
allele num: 57976
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6320
num of homozygotes: 0

East Asian
type: Population
allele count: 132
allele frequency: 1.806734191075828e-2
allele num: 7306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8364
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

QD
type: SiteQuality
SIO_000300: 1.531e1

DP
type: SiteQuality
SIO_000300: 1.062046e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

FS
type: SiteQuality
SIO_000300: 2.081e0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 8.75e1
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GenotypeQuality
all individuals: 362
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5942
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.143646408839779e-4
allele num: 7240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9600
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.306e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.999999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.62e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

DP
type: SiteQuality
SIO_000300: 1.009747e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

GenotypeQuality
all individuals: 10479
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1929
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508113651444773e-5
allele num: 66308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15880
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.792e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

DP
type: SiteQuality
SIO_000300: 1.940619e6

QD
type: SiteQuality
SIO_000300: 1.595e1

MQRankSum
type: SiteQuality
SIO_000300: 2.81e0

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.84e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15988
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.285e1

MQ
type: SiteQuality
SIO_000300: 5.908e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.31e-1

FS
type: SiteQuality
SIO_000300: 5.726e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.768e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.9e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

DP
type: SiteQuality
SIO_000300: 1.941852e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.17e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2766
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507113576079093e-5
allele num: 66352
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16020
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.943644e6

QD
type: SiteQuality
SIO_000300: 4.64e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.112e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.138e0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 45
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variant carriers: 0

GenotypeQuality
all individuals: 161
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16022
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
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: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 11
allele frequency: 1.275510204081633e-3
allele num: 8624
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.073e0

QD
type: SiteQuality
SIO_000300: 1.421e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 1.94552e6

VQSLOD
type: SiteQuality
SIO_000300: 5.25e0

GenotypeQuality
all individuals: 695
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1895
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 293
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variant carriers: 0

GenotypeQuality
all individuals: 5530
bin: 9.75e1
variant carriers: 3

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66376
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.478664192949907e-4
allele num: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16048
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: 9800
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.317e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.677e0

MQ
type: SiteQuality
SIO_000300: 5.879e1

VQSLOD
type: SiteQuality
SIO_000300: -1.035e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

DP
type: SiteQuality
SIO_000300: 1.94882e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66386
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: 894
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16048
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

QD
type: SiteQuality
SIO_000300: 1.314e1

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

FS
type: SiteQuality
SIO_000300: 1.422e0

DP
type: SiteQuality
SIO_000300: 1.953974e6

MQRankSum
type: SiteQuality
SIO_000300: 4.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.868e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504845602841149e-5
allele num: 66452
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-2

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.965e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.987e1

DP
type: SiteQuality
SIO_000300: 1.96027e6

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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bin: 2.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504302304591131e-5
allele num: 66476
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.18e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.962125e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
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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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501997656883655e-5
allele num: 66578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.535e0

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

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

Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0

QD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.975384e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

FS
type: SiteQuality
SIO_000300: 4.446e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

QD
type: SiteQuality
SIO_000300: 1.173e1

DP
type: SiteQuality
SIO_000300: 1.976272e6

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 5515
bin: 9.75e1
variant carriers: 1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 3.866e0

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.976315e6

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e0

MQ
type: SiteQuality
SIO_000300: 5.916e1

QD
type: SiteQuality
SIO_000300: 1.424e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

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: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.019575856443719e-4
allele num: 9808
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.495863805299125e-5
allele num: 66728
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.44e-1

FS
type: SiteQuality
SIO_000300: 5.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.86e-1

DP
type: SiteQuality
SIO_000300: 1.976473e6

ClippingRankSum
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

QD
type: SiteQuality
SIO_000300: 1.387e1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

African
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allele count: 1
allele frequency: 1.019575856443719e-4
allele num: 9808
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.604e0

ReadPosRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
SIO_000300: 2.418e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.04e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.17e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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bin: 9.25e1
variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.14e-1

DP
type: SiteQuality
SIO_000300: 1.976193e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

QD
type: SiteQuality
SIO_000300: 1.117e1

VQSLOD
type: SiteQuality
SIO_000300: 1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

FS
type: SiteQuality
SIO_000300: 8.98e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.511e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.894e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.131e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.908e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.3e-1

MQ
type: SiteQuality
SIO_000300: 5.898e1

DP
type: SiteQuality
SIO_000300: 1.976202e6

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.187e1

DP
type: SiteQuality
SIO_000300: 1.976168e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

FS
type: SiteQuality
SIO_000300: 8.69e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.519e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.606e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.976164e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8626
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -3.734e-1

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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num of homozygotes: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

East Asian
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African
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allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

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

Other
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num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
allele num: 9796
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
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SIO_000300: 7.89e-1

QD
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VQSLOD
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FS
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.162e0

DP
type: SiteQuality
SIO_000300: 1.975227e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9796
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.581e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-1

InbreedingCoeff
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MQ
type: SiteQuality
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VQSLOD
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MQRankSum
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QD
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BaseQRankSum
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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BaseQRankSum
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MQRankSum
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DP
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.071e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66700
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Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.974003e6

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

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

African
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allele count: 2
allele frequency: 2.047502047502048e-4
allele num: 9768
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66522
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

MQ
type: SiteQuality
SIO_000300: 5.921e1

QD
type: SiteQuality
SIO_000300: 1.41e1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.96222e6

FS
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: 7.35e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66248
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African
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allele count: 1
allele frequency: 1.026483268322726e-4
allele num: 9742
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.331002331002331e-4
allele num: 8580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.16e-1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65966
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Other
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South Asian
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allele frequency: 6.129704548240775e-5
allele num: 16314
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8546
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African
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allele count: 1
allele frequency: 1.028171910343409e-4
allele num: 9726
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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FS
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.518233990222573e-5
allele num: 65866
num of homozygotes: 0

South Asian
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DP
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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FS
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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European (Finnish)
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African
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FS
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ClippingRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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South Asian
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Latino
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East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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MQRankSum
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MQ
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FS
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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African
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Latino
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European (Non-Finnish)
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European (Finnish)
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South Asian
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DP
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ClippingRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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FS
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ReadPosRankSum
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BaseQRankSum
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QD
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MQRankSum
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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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South Asian
type: Population
allele count: 1
allele frequency: 1.002004008016032e-4
allele num: 9980
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63002
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.176e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.921e0

VQSLOD
type: SiteQuality
SIO_000300: -1.883e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQ
type: SiteQuality
SIO_000300: 5.843e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-1

DP
type: SiteQuality
SIO_000300: 1.937018e6

GenotypeQuality
all individuals: 61
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4511
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2681
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1787
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1508
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8278
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.488566277635449e-5
allele num: 63234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.070663811563169e-4
allele num: 9340
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.935e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.04e-1

FS
type: SiteQuality
SIO_000300: 2.002e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

DP
type: SiteQuality
SIO_000300: 1.954851e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQ
type: SiteQuality
SIO_000300: 6.005e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5974
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.964559349337943e-5
allele num: 50902
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.83e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

DP
type: SiteQuality
SIO_000300: 3.047762e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.86e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 1281
bin: 7.25e1
variant carriers: 29

GenotypeQuality
all individuals: 1008
bin: 8.25e1
variant carriers: 22

GenotypeQuality
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bin: 1.75e1
variant carriers: 102

GenotypeQuality
all individuals: 2814
bin: 2.25e1
variant carriers: 109

GenotypeQuality
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bin: 6.25e1
variant carriers: 53

GenotypeQuality
all individuals: 1607
bin: 5.25e1
variant carriers: 69

GenotypeQuality
all individuals: 735
bin: 8.75e1
variant carriers: 15

GenotypeQuality
all individuals: 1215
bin: 7.75e1
variant carriers: 23

GenotypeQuality
all individuals: 1613
bin: 4.75e1
variant carriers: 73

South Asian
type: Population
allele count: 353
allele frequency: 4.380739637627203e-2
allele num: 8058
num of homozygotes: 0

Other
type: Population
allele count: 13
allele frequency: 1.940298507462686e-2
allele num: 670
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 1.004352192835621e-3
allele num: 5974
num of homozygotes: 0

Latino
type: Population
allele count: 88
allele frequency: 1.020644861980979e-2
allele num: 8622
num of homozygotes: 0

East Asian
type: Population
allele count: 151
allele frequency: 2.283726557773745e-2
allele num: 6612
num of homozygotes: 0

African
type: Population
allele count: 599
allele frequency: 7.701208536898946e-2
allele num: 7778
num of homozygotes: 14

European (Non-Finnish)
type: Population
allele count: 383
allele frequency: 7.524262307964324e-3
allele num: 50902
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.047762e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 2.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.83e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

QD
type: SiteQuality
SIO_000300: 2.78e0

GenotypeQuality
all individuals: 1878
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9881
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2814
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6452
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 1281
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 789
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variant carriers: 0

GenotypeQuality
all individuals: 1839
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1613
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 13
allele frequency: 1.671380817690923e-3
allele num: 7778
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5974
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8058
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.964559349337943e-5
allele num: 50902
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.83e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.047762e6

QD
type: SiteQuality
SIO_000300: 2.78e0

GenotypeQuality
all individuals: 1819
bin: 3.75e1
variant carriers: 89

GenotypeQuality
all individuals: 1962
bin: 2.75e1
variant carriers: 88

GenotypeQuality
all individuals: 2814
bin: 2.25e1
variant carriers: 102

GenotypeQuality
all individuals: 1607
bin: 5.25e1
variant carriers: 47

GenotypeQuality
all individuals: 789
bin: 9.25e1
variant carriers: 20

GenotypeQuality
all individuals: 1008
bin: 8.25e1
variant carriers: 27

GenotypeQuality
all individuals: 15975
bin: 6.25e1
variant carriers: 33

GenotypeQuality
all individuals: 6452
bin: 9.75e1
variant carriers: 391

GenotypeQuality
all individuals: 1640
bin: 4.25e1
variant carriers: 63

East Asian
type: Population
allele count: 70
allele frequency: 1.058681185722928e-2
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 50
allele frequency: 5.799118533982834e-3
allele num: 8622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.171744224974891e-3
allele num: 5974
num of homozygotes: 0

African
type: Population
allele count: 55
allele frequency: 7.071226536384674e-3
allele num: 7778
num of homozygotes: 0

Other
type: Population
allele count: 12
allele frequency: 1.791044776119403e-2
allele num: 670
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 761
allele frequency: 1.495029664846175e-2
allele num: 50902
num of homozygotes: 0

South Asian
type: Population
allele count: 182
allele frequency: 2.258624968974932e-2
allele num: 8058
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.83e-2

QD
type: SiteQuality
SIO_000300: 2.78e0

VQSLOD
type: SiteQuality
SIO_000300: 2.86e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.047762e6

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 755
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1445
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4246
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1183
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41000
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.041016031646887e-4
allele num: 9606
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65622
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.828541e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

QD
type: SiteQuality
SIO_000300: 1.731e1

VQSLOD
type: SiteQuality
SIO_000300: -1.691e0

MQRankSum
type: SiteQuality
SIO_000300: -3.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.142e0

MQ
type: SiteQuality
SIO_000300: 5.859e1

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1282
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 1185
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variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 762
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variant carriers: 0

GenotypeQuality
all individuals: 352
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variant carriers: 0

GenotypeQuality
all individuals: 598
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variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65788
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9626
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.535947712418301e-5
allele num: 15300
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.356e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.279e0

FS
type: SiteQuality
SIO_000300: 6.718e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

DP
type: SiteQuality
SIO_000300: 1.837235e6

VQSLOD
type: SiteQuality
SIO_000300: -1.828e0

MQRankSum
type: SiteQuality
SIO_000300: -1.705e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.976e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e0

GenotypeQuality
all individuals: 56
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43001
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variant carriers: 0

GenotypeQuality
all individuals: 424
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variant carriers: 0

GenotypeQuality
all individuals: 144
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variant carriers: 0

GenotypeQuality
all individuals: 6416
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variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
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variant carriers: 0

GenotypeQuality
all individuals: 290
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variant carriers: 0

GenotypeQuality
all individuals: 430
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variant carriers: 0

GenotypeQuality
all individuals: 1189
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15520
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.550142571133895e-5
allele num: 65932
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

FS
type: SiteQuality
SIO_000300: 5.590000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.81e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.98e0

QD
type: SiteQuality
SIO_000300: 1.134e1

DP
type: SiteQuality
SIO_000300: 1.845236e6

GenotypeQuality
all individuals: 760
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 38
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GenotypeQuality
all individuals: 396
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variant carriers: 0

GenotypeQuality
all individuals: 324
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variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.25e1
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GenotypeQuality
all individuals: 950
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GenotypeQuality
all individuals: 1191
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
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variant carriers: 0

GenotypeQuality
all individuals: 66
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15604
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.034340091021928e-4
allele num: 9668
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515197430225158e-5
allele num: 65998
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.723e0

DP
type: SiteQuality
SIO_000300: 1.850201e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.391e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.09e-1

FS
type: SiteQuality
SIO_000300: 1.9521e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQ
type: SiteQuality
SIO_000300: 5.981e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.629e0

QD
type: SiteQuality
SIO_000300: 1.293e1

GenotypeQuality
all individuals: 4250
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 309
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variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
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GenotypeQuality
all individuals: 78
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43710
bin: 6.25e1
variant carriers: 0

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

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

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

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

South Asian
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allele frequency: 1.271617497456765e-4
allele num: 15728
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66054
num of homozygotes: 0

DP
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QD
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ClippingRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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MQ
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MQRankSum
type: SiteQuality
SIO_000300: -1.0e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.906e0

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

South Asian
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allele count: 1
allele frequency: 6.3403499873193e-5
allele num: 15772
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66074
num of homozygotes: 0

FS
type: SiteQuality
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MQ
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MQRankSum
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SIO_000300: 3.5e-1

ClippingRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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DP
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.067e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

South Asian
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allele frequency: 6.310740880979428e-5
allele num: 15846
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9702
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.512264464809606e-5
allele num: 66126
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: 7.3e-3

MQRankSum
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BaseQRankSum
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DP
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FS
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -2.92e-1

MQ
type: SiteQuality
SIO_000300: 5.995e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.254e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15966
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e-1

FS
type: SiteQuality
SIO_000300: 2.664e0

VQSLOD
type: SiteQuality
SIO_000300: 6.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-2

DP
type: SiteQuality
SIO_000300: 1.861261e6

QD
type: SiteQuality
SIO_000300: 1.303e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 61

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

Other
type: Population
allele count: 2
allele frequency: 2.2271714922049e-3
allele num: 898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

European (Non-Finnish)
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allele count: 44
allele frequency: 6.614750894494724e-4
allele num: 66518
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

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

European (Finnish)
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allele count: 15
allele frequency: 2.267916540671303e-3
allele num: 6614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.877427e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

QD
type: SiteQuality
SIO_000300: 1.219e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9756
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South Asian
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allele frequency: 6.089392278650591e-5
allele num: 16422
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Latino
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allele count: 0
allele frequency: 0.0e0
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East Asian
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.11e-1

BaseQRankSum
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VQSLOD
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QD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
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African
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Other
type: Population
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QD
type: SiteQuality
SIO_000300: 1.374e1

FS
type: SiteQuality
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DP
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.31e-2

ClippingRankSum
type: SiteQuality
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MQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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Other
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 3.075030750307503e-4
allele num: 9756
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

MQRankSum
type: SiteQuality
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FS
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ReadPosRankSum
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DP
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QD
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InbreedingCoeff
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MQ
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 3.003544182134919e-5
allele num: 66588
num of homozygotes: 0

Latino
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South Asian
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African
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Other
type: Population
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DP
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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FS
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
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Other
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num of homozygotes: 0

South Asian
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Latino
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African
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allele frequency: 1.024380249948781e-4
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

MQ
type: SiteQuality
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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DP
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MQRankSum
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ReadPosRankSum
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QD
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.004924037710923e-5
allele num: 66612
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-2

MQ
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QD
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DP
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.65e-1

VQSLOD
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SIO_000300: 2.99e0

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

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

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

Other
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.50105073551486e-5
allele num: 66620
num of homozygotes: 0

InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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QD
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BaseQRankSum
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FS
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ClippingRankSum
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SIO_000300: -3.22e-1

DP
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SIO_000300: 1.876151e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.062075654704171e-5
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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East Asian
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allele frequency: 0.0e0
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FS
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InbreedingCoeff
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DP
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MQ
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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SIO_000300: 1.39e0

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

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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allele num: 9778
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South Asian
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Other
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num of homozygotes: 0

FS
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QD
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MQ
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SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 1.878242e6

MQRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e0

VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8620
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South Asian
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allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66700
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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FS
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MQ
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ReadPosRankSum
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QD
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 1.021659174499387e-4
allele num: 9788
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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FS
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MQ
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QD
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66722
num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

European (Non-Finnish)
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Other
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Latino
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East Asian
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allele num: 8624
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African
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European (Finnish)
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QD
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VQSLOD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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FS
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DP
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MQ
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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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South Asian
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European (Finnish)
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African
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Latino
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Other
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European (Non-Finnish)
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East Asian
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ReadPosRankSum
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MQ
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DP
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VQSLOD
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QD
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FS
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66736
num of homozygotes: 0

VQSLOD
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DP
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MQ
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BaseQRankSum
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MQRankSum
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SIO_000300: 1.73e-1

ReadPosRankSum
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FS
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InbreedingCoeff
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QD
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ClippingRankSum
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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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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: 1.85e-1

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

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

South Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele frequency: 1.159285879897983e-4
allele num: 8626
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.85e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
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ClippingRankSum
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MQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.878409e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

Latino
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allele count: 3
allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.318571759795966e-4
allele num: 8626
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

FS
type: SiteQuality
SIO_000300: 5.28e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.726e0

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.02e-1

DP
type: SiteQuality
SIO_000300: 1.878628e6

QD
type: SiteQuality
SIO_000300: 1.179e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.48e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

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

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

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

African
type: Population
allele count: 2
allele frequency: 2.040816326530612e-4
allele num: 9800
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
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SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.124e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.02e0

FS
type: SiteQuality
SIO_000300: 1.123e0

DP
type: SiteQuality
SIO_000300: 1.878303e6

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

QD
type: SiteQuality
SIO_000300: 1.353e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 8
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.041232904674423e-4
allele num: 9798
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.356e1

DP
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FS
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SIO_000300: 4.8355e1

MQRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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MQ
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 53
allele frequency: 7.941740589786622e-4
allele num: 66736
num of homozygotes: 0

Latino
type: Population
allele count: 1
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allele num: 11576
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Other
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African
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allele frequency: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

South Asian
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
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QD
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DP
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InbreedingCoeff
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SIO_000300: 2.9e-3

BaseQRankSum
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
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InbreedingCoeff
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SIO_000300: 1.61e-2

VQSLOD
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QD
type: SiteQuality
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MQ
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FS
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DP
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

Latino
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East Asian
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Other
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European (Finnish)
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South Asian
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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QD
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FS
type: SiteQuality
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MQ
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DP
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