3-15606034-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15606034
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15606034
    reference: chr 3
allele count: 4
allele frequency: 1.141357073560463e-4
allele num: 35046
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1517+24G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1436+24G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*978+24G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*930+24G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1337+24G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1271+24G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.794+24G>A
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29418
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7391
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11845
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

3-15606041-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15606041
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15606041
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 36966
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*978+17A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.794+17A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*930+17A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1517+17A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1337+17A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1271+17A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1436+17A>G
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31722
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9377
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29333
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 1.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

3-15606046-TTGGTTACTTACAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15606046
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15606033
    reference: chr 3
allele count: 41
allele frequency: 1.044532762661775e-3
allele num: 39252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: splice donor
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32540
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1516_1517+11delGTGTAAGTAACCA
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: TTGGTTACTTACAC
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/3-15606052-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15606052
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15606052
    reference: chr 3
allele count: 2
allele frequency: 4.801690194948622e-5
allele num: 41652
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.794+6T>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1436+6T>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*930+6T>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1271+6T>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*978+6T>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1517+6T>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1337+6T>G
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32988
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6492
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31546
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1517+6T>G
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

3-15606055-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15606055
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15606055
    reference: chr 3
allele count: 27
allele frequency: 6.274108844169726e-4
allele num: 43034
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1436+3A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1271+3A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*978+3A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*930+3A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1337+3A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.794+3A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1517+3A>G
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 33038
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31162
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1517+3A>G
num of homozygotes: 1
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-15606062-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15606062
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15606062
    reference: chr 3
allele count: 2
allele frequency: 4.287245444801715e-5
allele num: 46650
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1513G>T
  hgvsp: ENSP00000323811.5:p.Ala505Ser
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*926G>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.790G>T
  hgvsp: ENSP00000395278.2:p.Ala264Ser
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1267G>T
  hgvsp: ENSP00000403656.2:p.Ala423Ser
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*974G>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1432G>T
  hgvsp: ENSP00000390699.2:p.Ala478Ser
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1333G>T
  hgvsp: ENSP00000404883.2:p.Ala445Ser
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4336
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala505Ser
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

3-15606063-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15606063
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15606063
    reference: chr 3
allele count: 1
allele frequency: 2.111664836557142e-5
allele num: 47356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.789T>C
  hgvsp: ENST00000435217.2:c.789T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1431T>C
  hgvsp: ENST00000456194.2:c.1431T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*973T>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1266T>C
  hgvsp: ENST00000451445.2:c.1266T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1332T>C
  hgvsp: ENST00000457447.2:c.1332T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1512T>C
  hgvsp: ENST00000321169.5:c.1512T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*925T>C
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4192
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31474
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12232
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr504Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

3-15606069-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15606069
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15606069
    reference: chr 3
allele count: 9
allele frequency: 1.771026014404345e-4
allele num: 50818
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1506T>C
  hgvsp: ENST00000321169.5:c.1506T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1425T>C
  hgvsp: ENST00000456194.2:c.1425T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1326T>C
  hgvsp: ENST00000457447.2:c.1326T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*967T>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*919T>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1260T>C
  hgvsp: ENST00000451445.2:c.1260T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.783T>C
  hgvsp: ENST00000435217.2:c.783T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31650
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9585
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3414
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Asp502Asp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

3-15606086-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15606086
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15606086
    reference: chr 3
allele count: 3
allele frequency: 5.036261079774375e-5
allele num: 59568
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.766A>G
  hgvsp: ENSP00000395278.2:p.Met256Val
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*950A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1408A>G
  hgvsp: ENSP00000390699.2:p.Met470Val
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1489A>G
  hgvsp: ENSP00000323811.5:p.Met497Val
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1243A>G
  hgvsp: ENSP00000403656.2:p.Met415Val
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1309A>G
  hgvsp: ENSP00000404883.2:p.Met437Val
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*902A>G
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28722
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28506
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17303
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met497Val
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-15606107-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15606107
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15606107
    reference: chr 3
allele count: 1
allele frequency: 1.414867426922097e-5
allele num: 70678
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*929G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.745G>A
  hgvsp: ENSP00000395278.2:p.Asp249Asn
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1387G>A
  hgvsp: ENSP00000390699.2:p.Asp463Asn
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1468G>A
  hgvsp: ENSP00000323811.5:p.Asp490Asn
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1222G>A
  hgvsp: ENSP00000403656.2:p.Asp408Asn
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1288G>A
  hgvsp: ENSP00000404883.2:p.Asp430Asn
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*881G>A
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24021
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp490Asn
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

3-15606112-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15606112
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15606112
    reference: chr 3
allele count: 6
allele frequency: 8.287292817679558e-5
allele num: 72400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1217G>A
  hgvsp: ENSP00000403656.2:p.Gly406Asp
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1283G>A
  hgvsp: ENSP00000404883.2:p.Gly428Asp
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.740G>A
  hgvsp: ENSP00000395278.2:p.Gly247Asp
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1382G>A
  hgvsp: ENSP00000390699.2:p.Gly461Asp
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*924G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*876G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1463G>A
  hgvsp: ENSP00000323811.5:p.Gly488Asp
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20073
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24494
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly488Asp
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

3-15606123-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15606123
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15606123
    reference: chr 3
allele count: 1
allele frequency: 1.334044823906083e-5
allele num: 74960
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1272A>T
  hgvsp: ENST00000457447.2:c.1272A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*913A>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*865A>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1371A>T
  hgvsp: ENST00000456194.2:c.1371A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.729A>T
  hgvsp: ENST00000435217.2:c.729A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1206A>T
  hgvsp: ENST00000451445.2:c.1206A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1452A>T
  hgvsp: ENST00000321169.5:c.1452A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24952
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly484Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

3-15606127-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15606127
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15606127
    reference: chr 3
allele count: 1
allele frequency: 1.321353065539112e-5
allele num: 75680
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1448A>G
  hgvsp: ENSP00000323811.5:p.Asn483Ser
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*861A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*909A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1268A>G
  hgvsp: ENSP00000404883.2:p.Asn423Ser
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1367A>G
  hgvsp: ENSP00000390699.2:p.Asn456Ser
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1202A>G
  hgvsp: ENSP00000403656.2:p.Asn401Ser
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.725A>G
  hgvsp: ENSP00000395278.2:p.Asn242Ser
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21180
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn483Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

3-15606131-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15606131
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15606131
    reference: chr 3
allele count: 1
allele frequency: 1.314025912590996e-5
allele num: 76102
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.721A>G
  hgvsp: ENSP00000395278.2:p.Asn241Asp
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*905A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1363A>G
  hgvsp: ENSP00000390699.2:p.Asn455Asp
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1264A>G
  hgvsp: ENSP00000404883.2:p.Asn422Asp
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*857A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1198A>G
  hgvsp: ENSP00000403656.2:p.Asn400Asp
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1444A>G
  hgvsp: ENSP00000323811.5:p.Asn482Asp
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24091
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn482Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

3-15606152-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15606152
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15606152
    reference: chr 3
allele count: 1
allele frequency: 1.382934587194026e-5
allele num: 72310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1243A>G
  hgvsp: ENSP00000404883.2:p.Ile415Val
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*884A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.700A>G
  hgvsp: ENSP00000395278.2:p.Ile234Val
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1423A>G
  hgvsp: ENSP00000323811.5:p.Ile475Val
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1342A>G
  hgvsp: ENSP00000390699.2:p.Ile448Val
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1177A>G
  hgvsp: ENSP00000403656.2:p.Ile393Val
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*836A>G
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22781
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20238
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2377
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile475Val
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

3-15606155-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15606155
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15606155
    reference: chr 3
allele count: 1
allele frequency: 1.396921185706703e-5
allele num: 71586
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1339C>G
  hgvsp: ENSP00000390699.2:p.Pro447Ala
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1174C>G
  hgvsp: ENSP00000403656.2:p.Pro392Ala
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1240C>G
  hgvsp: ENSP00000404883.2:p.Pro414Ala
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*881C>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.697C>G
  hgvsp: ENSP00000395278.2:p.Pro233Ala
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*833C>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1420C>G
  hgvsp: ENSP00000323811.5:p.Pro474Ala
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8904
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22868
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29231
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Pro474Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-15606164-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15606164
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15606164
    reference: chr 3
allele count: 1
allele frequency: 1.480954919732243e-5
allele num: 67524
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1165T>G
  hgvsp: ENSP00000403656.2:p.Tyr389Asp
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1231T>G
  hgvsp: ENSP00000404883.2:p.Tyr411Asp
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.688T>G
  hgvsp: ENSP00000395278.2:p.Tyr230Asp
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*824T>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*872T>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1411T>G
  hgvsp: ENSP00000323811.5:p.Tyr471Asp
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1330T>G
  hgvsp: ENSP00000390699.2:p.Tyr444Asp
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12272
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32147
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr471Asp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

3-15606164-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15606164
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15606164
    reference: chr 3
allele count: 2
allele frequency: 2.961909839464487e-5
allele num: 67524
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1165T>C
  hgvsp: ENSP00000403656.2:p.Tyr389His
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*824T>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*872T>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1411T>C
  hgvsp: ENSP00000323811.5:p.Tyr471His
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1330T>C
  hgvsp: ENSP00000390699.2:p.Tyr444His
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.688T>C
  hgvsp: ENSP00000395278.2:p.Tyr230His
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1231T>C
  hgvsp: ENSP00000404883.2:p.Tyr411His
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12272
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9557
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3165
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32147
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr471His
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-15606170-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15606170
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15606170
    reference: chr 3
allele count: 1
allele frequency: 1.539693293096015e-5
allele num: 64948
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*823-5T>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1164-5T>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1230-5T>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*871-5T>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1329-5T>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.687-5T>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1410-5T>G
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13850
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12012
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1410-5T>G
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

3-15606172-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15606172
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15606172
    reference: chr 3
allele count: 1
allele frequency: 1.554968123153475e-5
allele num: 64310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*871-7A>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*823-7A>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1410-7A>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.687-7A>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1329-7A>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1164-7A>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1230-7A>C
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14027
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11809
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33287
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1410-7A>C
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

3-15606173-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15606173
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15606173
    reference: chr 3
allele count: 1
allele frequency: 1.569021244547651e-5
allele num: 63734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1230-8C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1410-8C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*823-8C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.687-8C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*871-8C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1164-8C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1329-8C>T
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11337
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1410-8C>T
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

3-15606175-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15606175
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15606175
    reference: chr 3
allele count: 2
allele frequency: 3.188572157387922e-5
allele num: 62724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1164-10C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*871-10C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.687-10C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1329-10C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1230-10C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1410-10C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*823-10C>T
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14728
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23437
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2368
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10553
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5798
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-15606178-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15606178
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15606178
    reference: chr 3
allele count: 16
allele frequency: 2.619772734715263e-4
allele num: 61074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1164-13A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.687-13A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1329-13A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*823-13A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1230-13A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*871-13A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1410-13A>G
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15186
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23138
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6525
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9301
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6996
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

3-15606185-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15606185
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15606184
    reference: chr 3
allele count: 1
allele frequency: 1.748068384435199e-5
allele num: 57206
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*871-21delC
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.687-21delC
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1164-21delC
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1230-21delC
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*823-21delC
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1329-21delC
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1410-21delC
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 9213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9858
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: TG
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS

3-15606186-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15606186
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15606185
    reference: chr 3
allele count: 1
allele frequency: 1.776640727712042e-5
allele num: 56286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.687-22delT
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1164-22delT
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*871-22delT
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*823-22delT
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1410-22delT
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1230-22delT
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1329-22delT
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9698
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10428
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30077
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7003
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: GA
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-15606206-TTAAAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15606206
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15606201
    reference: chr 3
allele count: 1
allele frequency: 2.577585318074028e-5
allele num: 38796
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.687-46_687-42delCTTTA
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1329-46_1329-42delCTTTA
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1230-46_1230-42delCTTTA
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*871-46_*871-42delCTTTA
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*823-46_*823-42delCTTTA
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1164-46_1164-42delCTTTA
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1410-46_1410-42delCTTTA
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16058
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9418
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17688
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6322
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14458
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2361
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: TTAAAG
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-15606208-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15606208
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15606208
    reference: chr 3
allele count: 1
allele frequency: 2.580911577969339e-5
allele num: 38746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*871-43T>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*823-43T>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.687-43T>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1329-43T>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1410-43T>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1230-43T>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1164-43T>A
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17806
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4856
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14950
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6304
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

3-15609308-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609308
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609308
    reference: chr 3
allele count: 1
allele frequency: 8.276912380605539e-6
allele num: 120818
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1229+43A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1163+43A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1328+43A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*822+43A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.686+43A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*870+43A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1409+43A>G
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4083
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10978
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum

3-15609338-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609338
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609338
    reference: chr 3
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1229+13C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1409+13C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*870+13C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1328+13C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1163+13C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*822+13C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.686+13C>T
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4077
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25296
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

3-15609344-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609344
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609344
    reference: chr 3
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1409+7C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.686+7C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*822+7C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1163+7C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*870+7C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1328+7C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1229+7C>T
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13387
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1409+7C>T
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-15609349-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609349
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609348
    reference: chr 3
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*822+1delG
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.686+1delG
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1229+1delG
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1163+1delG
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1328+1delG
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1409+1delG
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*870+1delG
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4025
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13446
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1409+1delG
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: AC
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS

3-15609351-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609351
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609351
    reference: chr 3
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.686G>A
  hgvsp: ENSP00000395278.2:p.Arg229Lys
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1163G>A
  hgvsp: ENSP00000403656.2:p.Arg388Lys
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1328G>A
  hgvsp: ENSP00000390699.2:p.Arg443Lys
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1409G>A
  hgvsp: ENSP00000323811.5:p.Arg470Lys
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1229G>A
  hgvsp: ENSP00000404883.2:p.Arg410Lys
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*822G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*870G>A
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6030
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9602
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13438
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg470Lys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

3-15609361-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609361
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609361
    reference: chr 3
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*860A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1399A>G
  hgvsp: ENSP00000323811.5:p.Thr467Ala
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1219A>G
  hgvsp: ENSP00000404883.2:p.Thr407Ala
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1153A>G
  hgvsp: ENSP00000403656.2:p.Thr385Ala
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.676A>G
  hgvsp: ENSP00000395278.2:p.Thr226Ala
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*812A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1318A>G
  hgvsp: ENSP00000390699.2:p.Thr440Ala
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9594
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3856
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2412
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4024
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr467Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-15609365-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609365
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609365
    reference: chr 3
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.672A>G
  hgvsp: ENST00000435217.2:c.672A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1314A>G
  hgvsp: ENST00000456194.2:c.1314A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1215A>G
  hgvsp: ENST00000457447.2:c.1215A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1395A>G
  hgvsp: ENST00000321169.5:c.1395A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1149A>G
  hgvsp: ENST00000451445.2:c.1149A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*808A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*856A>G
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4080
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val465Val
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP

3-15609384-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609384
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609384
    reference: chr 3
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1295G>A
  hgvsp: ENSP00000390699.2:p.Gly432Glu
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1376G>A
  hgvsp: ENSP00000323811.5:p.Gly459Glu
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*789G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.653G>A
  hgvsp: ENSP00000395278.2:p.Gly218Glu
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1130G>A
  hgvsp: ENSP00000403656.2:p.Gly377Glu
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1196G>A
  hgvsp: ENSP00000404883.2:p.Gly399Glu
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*837G>A
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4023
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly459Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-15609385-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609385
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609385
    reference: chr 3
allele count: 15
allele frequency: 1.235564488229189e-4
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*788G>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1129G>C
  hgvsp: ENSP00000403656.2:p.Gly377Arg
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1195G>C
  hgvsp: ENSP00000404883.2:p.Gly399Arg
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.652G>C
  hgvsp: ENSP00000395278.2:p.Gly218Arg
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1375G>C
  hgvsp: ENSP00000323811.5:p.Gly459Arg
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1294G>C
  hgvsp: ENSP00000390699.2:p.Gly432Arg
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*836G>C
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7739
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4023
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13568
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly459Arg
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: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

3-15609395-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609395
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609395
    reference: chr 3
allele count: 6
allele frequency: 4.942095118857387e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1185C>T
  hgvsp: ENST00000457447.2:c.1185C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*826C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.642C>T
  hgvsp: ENST00000435217.2:c.642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1284C>T
  hgvsp: ENST00000456194.2:c.1284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1365C>T
  hgvsp: ENST00000321169.5:c.1365C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*778C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1119C>T
  hgvsp: ENST00000451445.2:c.1119C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6032
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25288
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4024
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4079
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp455Asp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

3-15609404-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609404
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609404
    reference: chr 3
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1356G>A
  hgvsp: ENST00000321169.5:c.1356G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1275G>A
  hgvsp: ENST00000456194.2:c.1275G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*769G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*817G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1176G>A
  hgvsp: ENST00000457447.2:c.1176G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1110G>A
  hgvsp: ENST00000451445.2:c.1110G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.633G>A
  hgvsp: ENST00000435217.2:c.633G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8616
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13578
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val452Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

3-15609408-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609408
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609408
    reference: chr 3
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.629G>C
  hgvsp: ENSP00000395278.2:p.Cys210Ser
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1271G>C
  hgvsp: ENSP00000390699.2:p.Cys424Ser
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1106G>C
  hgvsp: ENSP00000403656.2:p.Cys369Ser
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*813G>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*765G>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1172G>C
  hgvsp: ENSP00000404883.2:p.Cys391Ser
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1352G>C
  hgvsp: ENSP00000323811.5:p.Cys451Ser
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6031
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4078
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3857
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Cys451Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS

3-15609412-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609412
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609412
    reference: chr 3
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*809A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.625A>G
  hgvsp: ENSP00000395278.2:p.Ile209Val
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1348A>G
  hgvsp: ENSP00000323811.5:p.Ile450Val
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1168A>G
  hgvsp: ENSP00000404883.2:p.Ile390Val
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1267A>G
  hgvsp: ENSP00000390699.2:p.Ile423Val
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*761A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1102A>G
  hgvsp: ENSP00000403656.2:p.Ile368Val
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6031
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5216
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile450Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

3-15609415-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609415
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609414
    reference: chr 3
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1344delG
  hgvsp: ENSP00000323811.5:p.Trp448Ter
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1164delG
  hgvsp: ENSP00000404883.2:p.Trp388Ter
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*757delG
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.621delG
  hgvsp: ENSP00000395278.2:p.Trp207Ter
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1263delG
  hgvsp: ENSP00000390699.2:p.Trp421Ter
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*805delG
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1098delG
  hgvsp: ENSP00000403656.2:p.Trp366Ter
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6031
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4079
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3857
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4024
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Trp448Ter
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: TC
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-15609419-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609419
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609419
    reference: chr 3
allele count: 35
allele frequency: 2.882841328413284e-4
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1341A>G
  hgvsp: ENST00000321169.5:c.1341A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.618A>G
  hgvsp: ENST00000435217.2:c.618A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1095A>G
  hgvsp: ENST00000451445.2:c.1095A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*754A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*802A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1260A>G
  hgvsp: ENST00000456194.2:c.1260A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1161A>G
  hgvsp: ENST00000457447.2:c.1161A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6030
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 9.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4024
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5215
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln447Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

3-15609422-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609422
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609422
    reference: chr 3
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1257G>A
  hgvsp: ENST00000456194.2:c.1257G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1338G>A
  hgvsp: ENST00000321169.5:c.1338G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*799G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1092G>A
  hgvsp: ENST00000451445.2:c.1092G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1158G>A
  hgvsp: ENST00000457447.2:c.1158G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.615G>A
  hgvsp: ENST00000435217.2:c.615G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*751G>A
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6031
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25262
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4027
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly446Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

3-15609426-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609426
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609426
    reference: chr 3
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*747C>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*795C>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1253C>G
  hgvsp: ENSP00000390699.2:p.Pro418Arg
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1334C>G
  hgvsp: ENSP00000323811.5:p.Pro445Arg
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1088C>G
  hgvsp: ENSP00000403656.2:p.Pro363Arg
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1154C>G
  hgvsp: ENSP00000404883.2:p.Pro385Arg
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.611C>G
  hgvsp: ENSP00000395278.2:p.Pro204Arg
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4081
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro445Arg
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP

3-15609428-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609428
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609428
    reference: chr 3
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.609C>T
  hgvsp: ENST00000435217.2:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1332C>T
  hgvsp: ENST00000321169.5:c.1332C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1251C>T
  hgvsp: ENST00000456194.2:c.1251C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1152C>T
  hgvsp: ENST00000457447.2:c.1152C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1086C>T
  hgvsp: ENST00000451445.2:c.1086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*793C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*745C>T
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5217
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3858
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4082
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser444Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

3-15609430-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609430
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609430
    reference: chr 3
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1084A>G
  hgvsp: ENSP00000403656.2:p.Ser362Gly
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.607A>G
  hgvsp: ENSP00000395278.2:p.Ser203Gly
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*743A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1330A>G
  hgvsp: ENSP00000323811.5:p.Ser444Gly
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1150A>G
  hgvsp: ENSP00000404883.2:p.Ser384Gly
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1249A>G
  hgvsp: ENSP00000390699.2:p.Ser417Gly
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*791A>G
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13584
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25260
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser444Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

3-15609437-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609437
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609437
    reference: chr 3
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.600A>C
  hgvsp: ENSP00000395278.2:p.Lys200Asn
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1143A>C
  hgvsp: ENSP00000404883.2:p.Lys381Asn
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1077A>C
  hgvsp: ENSP00000403656.2:p.Lys359Asn
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*784A>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1242A>C
  hgvsp: ENSP00000390699.2:p.Lys414Asn
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1323A>C
  hgvsp: ENSP00000323811.5:p.Lys441Asn
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*736A>C
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13586
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  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: 4082
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys441Asn
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

3-15609438-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609438
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609438
    reference: chr 3
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1076A>C
  hgvsp: ENSP00000403656.2:p.Lys359Thr
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*783A>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1322A>C
  hgvsp: ENSP00000323811.5:p.Lys441Thr
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*735A>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.599A>C
  hgvsp: ENSP00000395278.2:p.Lys200Thr
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1142A>C
  hgvsp: ENSP00000404883.2:p.Lys381Thr
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1241A>C
  hgvsp: ENSP00000390699.2:p.Lys414Thr
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13584
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5220
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys441Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/3-15609444-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609444
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609443
    reference: chr 3
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1315delG
  hgvsp: ENSP00000323811.5:p.Val439TrpfsTer27
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.592delG
  hgvsp: ENSP00000395278.2:p.Val198TrpfsTer27
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*728delG
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*776delG
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1234delG
  hgvsp: ENSP00000390699.2:p.Val412TrpfsTer27
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1069delG
  hgvsp: ENSP00000403656.2:p.Val357TrpfsTer27
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1135delG
  hgvsp: ENSP00000404883.2:p.Val379TrpfsTer27
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4027
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val439TrpfsTer27
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: AC
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum

http://identifiers.org/exac.variant/3-15609448-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609448
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609448
    reference: chr 3
allele count: 52
allele frequency: 4.283290225861188e-4
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*725G>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1066G>T
  hgvsp: ENSP00000403656.2:p.Val356Leu
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*773G>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1132G>T
  hgvsp: ENSP00000404883.2:p.Val378Leu
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.589G>T
  hgvsp: ENSP00000395278.2:p.Val197Leu
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1231G>T
  hgvsp: ENSP00000390699.2:p.Val411Leu
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1312G>T
  hgvsp: ENSP00000323811.5:p.Val438Leu
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 9.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4027
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5220
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val438Leu
num of homozygotes: 1
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum

3-15609449-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609449
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609449
    reference: chr 3
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.588C>T
  hgvsp: ENST00000435217.2:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1131C>T
  hgvsp: ENST00000457447.2:c.1131C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*772C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1230C>T
  hgvsp: ENST00000456194.2:c.1230C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1065C>T
  hgvsp: ENST00000451445.2:c.1065C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1311C>T
  hgvsp: ENST00000321169.5:c.1311C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*724C>T
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7760
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4029
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13594
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala437Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-15609452-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609452
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609452
    reference: chr 3
allele count: 9
allele frequency: 7.413509060955519e-5
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*769T>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.585T>G
  hgvsp: ENST00000435217.2:c.585T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*721T>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1128T>G
  hgvsp: ENST00000457447.2:c.1128T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1227T>G
  hgvsp: ENST00000456194.2:c.1227T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1308T>G
  hgvsp: ENST00000321169.5:c.1308T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1062T>G
  hgvsp: ENST00000451445.2:c.1062T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5218
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala436Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

3-15609458-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609458
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609458
    reference: chr 3
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1221T>C
  hgvsp: ENST00000456194.2:c.1221T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1056T>C
  hgvsp: ENST00000451445.2:c.1056T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1302T>C
  hgvsp: ENST00000321169.5:c.1302T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1122T>C
  hgvsp: ENST00000457447.2:c.1122T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.579T>C
  hgvsp: ENST00000435217.2:c.579T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*715T>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*763T>C
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6034
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3859
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4029
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25228
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile434Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

3-15609460-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609460
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609460
    reference: chr 3
allele count: 4
allele frequency: 3.295001482750667e-5
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1054A>G
  hgvsp: ENSP00000403656.2:p.Ile352Val
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1120A>G
  hgvsp: ENSP00000404883.2:p.Ile374Val
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1219A>G
  hgvsp: ENSP00000390699.2:p.Ile407Val
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*761A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*713A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.577A>G
  hgvsp: ENSP00000395278.2:p.Ile193Val
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1300A>G
  hgvsp: ENSP00000323811.5:p.Ile434Val
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  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: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile434Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

3-15609469-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609469
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609469
    reference: chr 3
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.568G>A
  hgvsp: ENSP00000395278.2:p.Gly190Arg
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*752G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1291G>A
  hgvsp: ENSP00000323811.5:p.Gly431Arg
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1045G>A
  hgvsp: ENSP00000403656.2:p.Gly349Arg
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1111G>A
  hgvsp: ENSP00000404883.2:p.Gly371Arg
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*704G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1210G>A
  hgvsp: ENSP00000390699.2:p.Gly404Arg
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3858
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25225
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly431Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

3-15609486-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609486
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609486
    reference: chr 3
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.551C>G
  hgvsp: ENSP00000395278.2:p.Thr184Arg
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1274C>G
  hgvsp: ENSP00000323811.5:p.Thr425Arg
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1193C>G
  hgvsp: ENSP00000390699.2:p.Thr398Arg
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1028C>G
  hgvsp: ENSP00000403656.2:p.Thr343Arg
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*735C>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1094C>G
  hgvsp: ENSP00000404883.2:p.Thr365Arg
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*687C>G
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5213
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4081
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr425Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/3-15609489-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609489
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609489
    reference: chr 3
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1271G>T
  hgvsp: ENSP00000323811.5:p.Gly424Val
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1190G>T
  hgvsp: ENSP00000390699.2:p.Gly397Val
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.548G>T
  hgvsp: ENSP00000395278.2:p.Gly183Val
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1025G>T
  hgvsp: ENSP00000403656.2:p.Gly342Val
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*684G>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1091G>T
  hgvsp: ENSP00000404883.2:p.Gly364Val
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*732G>T
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4080
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly424Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

3-15609490-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609490
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609490
    reference: chr 3
allele count: 76
allele frequency: 6.262050327109734e-4
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1189G>A
  hgvsp: ENSP00000390699.2:p.Gly397Arg
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1024G>A
  hgvsp: ENSP00000403656.2:p.Gly342Arg
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*731G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.547G>A
  hgvsp: ENSP00000395278.2:p.Gly183Arg
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1270G>A
  hgvsp: ENSP00000323811.5:p.Gly424Arg
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1090G>A
  hgvsp: ENSP00000404883.2:p.Gly364Arg
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*683G>A
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8637
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 9.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7764
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9297
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4026
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3859
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  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: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25223
  bin: 9.75e1
  variant carriers: 76
hgvs: p.Gly424Arg
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

3-15609491-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609491
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609491
    reference: chr 3
allele count: 6
allele frequency: 4.944131316127757e-5
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1269C>T
  hgvsp: ENST00000321169.5:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1023C>T
  hgvsp: ENST00000451445.2:c.1023C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.546C>T
  hgvsp: ENST00000435217.2:c.546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1188C>T
  hgvsp: ENST00000456194.2:c.1188C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*682C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1089C>T
  hgvsp: ENST00000457447.2:c.1089C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*730C>T
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6042
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25185
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3865
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4083
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe423Phe
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

3-15609491-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609491
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609490
    reference: chr 3
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*729delT
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1022delT
  hgvsp: ENSP00000403656.2:p.Phe341SerfsTer43
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.545delT
  hgvsp: ENSP00000395278.2:p.Phe182SerfsTer43
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1088delT
  hgvsp: ENSP00000404883.2:p.Phe363SerfsTer43
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*681delT
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1187delT
  hgvsp: ENSP00000390699.2:p.Phe396SerfsTer43
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1268delT
  hgvsp: ENSP00000323811.5:p.Phe423SerfsTer43
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6042
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5215
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13555
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3865
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe423SerfsTer43
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: GA
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

3-15609492-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609492
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609492
    reference: chr 3
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1187T>C
  hgvsp: ENSP00000390699.2:p.Phe396Ser
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1268T>C
  hgvsp: ENSP00000323811.5:p.Phe423Ser
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*729T>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1088T>C
  hgvsp: ENSP00000404883.2:p.Phe363Ser
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1022T>C
  hgvsp: ENSP00000403656.2:p.Phe341Ser
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*681T>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.545T>C
  hgvsp: ENSP00000395278.2:p.Phe182Ser
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6043
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5220
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25180
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe423Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

3-15609499-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609499
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609499
    reference: chr 3
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1081G>A
  hgvsp: ENSP00000404883.2:p.Gly361Ser
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*674G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1261G>A
  hgvsp: ENSP00000323811.5:p.Gly421Ser
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1015G>A
  hgvsp: ENSP00000403656.2:p.Gly339Ser
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.538G>A
  hgvsp: ENSP00000395278.2:p.Gly180Ser
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1180G>A
  hgvsp: ENSP00000390699.2:p.Gly394Ser
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*722G>A
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4027
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4085
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly421Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

3-15609500-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609500
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609500
    reference: chr 3
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*721T>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1080T>C
  hgvsp: ENST00000457447.2:c.1080T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.537T>C
  hgvsp: ENST00000435217.2:c.537T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*673T>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1179T>C
  hgvsp: ENST00000456194.2:c.1179T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1014T>C
  hgvsp: ENST00000451445.2:c.1014T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1260T>C
  hgvsp: ENST00000321169.5:c.1260T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7773
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4027
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13533
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4086
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala420Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

3-15609503-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609503
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609503
    reference: chr 3
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1176T>C
  hgvsp: ENST00000456194.2:c.1176T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*670T>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.534T>C
  hgvsp: ENST00000435217.2:c.534T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1077T>C
  hgvsp: ENST00000457447.2:c.1077T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1257T>C
  hgvsp: ENST00000321169.5:c.1257T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1011T>C
  hgvsp: ENST00000451445.2:c.1011T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*718T>C
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7774
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4083
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25177
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp419Asp
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

3-15609504-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609504
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609504
    reference: chr 3
allele count: 2
allele frequency: 1.648994937585542e-5
allele num: 121286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1010A>G
  hgvsp: ENSP00000403656.2:p.Asp337Gly
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1076A>G
  hgvsp: ENSP00000404883.2:p.Asp359Gly
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1175A>G
  hgvsp: ENSP00000390699.2:p.Asp392Gly
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1256A>G
  hgvsp: ENSP00000323811.5:p.Asp419Gly
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*669A>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.533A>G
  hgvsp: ENSP00000395278.2:p.Asp178Gly
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*717A>G
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7772
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4027
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13437
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp419Gly
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

3-15609509-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609509
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609509
    reference: chr 3
allele count: 2
allele frequency: 1.649919978881024e-5
allele num: 121218
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1170G>C
  hgvsp: ENSP00000390699.2:p.Arg390Ser
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*712G>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1005G>C
  hgvsp: ENSP00000403656.2:p.Arg335Ser
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*664G>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1071G>C
  hgvsp: ENSP00000404883.2:p.Arg357Ser
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.528G>C
  hgvsp: ENSP00000395278.2:p.Arg176Ser
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1251G>C
  hgvsp: ENSP00000323811.5:p.Arg417Ser
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8648
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5186
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13336
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4076
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg417Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

3-15609509-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609509
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609509
    reference: chr 3
allele count: 3
allele frequency: 2.474879968321537e-5
allele num: 121218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*712G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1071G>A
  hgvsp: ENST00000457447.2:c.1071G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1251G>A
  hgvsp: ENST00000321169.5:c.1251G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*664G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.528G>A
  hgvsp: ENST00000435217.2:c.528G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1005G>A
  hgvsp: ENST00000451445.2:c.1005G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1170G>A
  hgvsp: ENST00000456194.2:c.1170G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4076
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1251G>A
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

3-15609510-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609510
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609510
    reference: chr 3
allele count: 2
allele frequency: 1.650028875505322e-5
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*712-1G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*664-1G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1071-1G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1251-1G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.528-1G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1170-1G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1005-1G>A
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9622
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25172
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1251-1G>A
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/3-15609523-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609523
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609523
    reference: chr 3
allele count: 1
allele frequency: 8.259820927082301e-6
allele num: 121068
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1251-14T>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1170-14T>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1071-14T>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.528-14T>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*712-14T>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1005-14T>G
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*664-14T>G
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7760
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4070
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-15609524-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609524
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609524
    reference: chr 3
allele count: 4
allele frequency: 3.304583457255213e-5
allele num: 121044
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1170-15T>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*664-15T>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.528-15T>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1071-15T>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*712-15T>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1005-15T>C
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1251-15T>C
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9075
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4020
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4072
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

3-15609537-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609537
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609537
    reference: chr 3
allele count: 4
allele frequency: 3.308738378056447e-5
allele num: 120892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*712-28G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1005-28G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1071-28G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1170-28G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1251-28G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.528-28G>A
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*664-28G>A
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9283
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4852
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

3-15609546-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15609546
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 15609546
    reference: chr 3
allele count: 3
allele frequency: 2.486613729423271e-5
allele num: 120646
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000395278
  ensembl transcript: ENST00000435217
  gene symbol: HACL1
  hgvsc: ENST00000435217.2:c.528-37C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000404883
  ensembl transcript: ENST00000457447
  gene symbol: HACL1
  hgvsc: ENST00000457447.2:c.1071-37C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000403656
  ensembl transcript: ENST00000451445
  gene symbol: HACL1
  hgvsc: ENST00000451445.2:c.1005-37C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000392796
  ensembl transcript: ENST00000422591
  gene symbol: HACL1
  hgvsc: ENST00000422591.1:c.*664-37C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000390699
  ensembl transcript: ENST00000456194
  gene symbol: HACL1
  hgvsc: ENST00000456194.2:c.1170-37C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000323811
  ensembl transcript: ENST00000321169
  gene symbol: HACL1
  hgvsc: ENST00000321169.5:c.1251-37C>T
  variant of: http://identifiers.org/hgnc/17856
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131373
  ensembl protein: ENSP00000373289
  ensembl transcript: ENST00000383779
  gene symbol: HACL1
  hgvsc: ENST00000383779.4:c.*712-37C>T
  variant of: http://identifiers.org/hgnc/17856
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7719
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2240
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2408
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1798
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2104
bin: 1.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.226091221186856e-4
allele num: 16312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1214
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 1.074113856068743e-3
allele num: 1862
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.19e-2

FS
type: SiteQuality
SIO_000300: 4.519e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.14e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 7.88604e5

GenotypeQuality
all individuals: 8211
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2405
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1377
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8944
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4696
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2062
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2218
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17346
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.16272e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.76e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.378e1

GenotypeQuality
all individuals: 30773
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9008
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1419
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7780
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2429
bin: 9.75e1
variant carriers: 44

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

South Asian
type: Population
allele count: 41
allele frequency: 4.478916320734105e-3
allele num: 9154
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4924
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2288
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

MQ
type: SiteQuality
SIO_000300: 5.444e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

FS
type: SiteQuality
SIO_000300: 1.9439e1

DP
type: SiteQuality
SIO_000300: 8.39839e5

VQSLOD
type: SiteQuality
SIO_000300: -2.929e0

QD
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: -3.464e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.47e-2

GenotypeQuality
all individuals: 1863
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1757
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6199
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10103
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9240
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.004419445560466e-4
allele num: 19912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2572
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.406e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.22e-2

DP
type: SiteQuality
SIO_000300: 8.65865e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.702e1

GenotypeQuality
all individuals: 1461
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 286
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5570
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 10284
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2408
bin: 9.75e1
variant carriers: 30

GenotypeQuality
all individuals: 325
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1858
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1853
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 229
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 3.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9306
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2668
num of homozygotes: 0

East Asian
type: Population
allele count: 27
allele frequency: 1.0e-2
allele num: 2700
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20686
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5384
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.03e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.94e-1

DP
type: SiteQuality
SIO_000300: 8.78147e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

QD
type: SiteQuality
SIO_000300: 1.459e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

GenotypeQuality
all individuals: 1713
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31428
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11885
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2383
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1484
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 8.853474988933157e-5
allele num: 22590
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3116
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2888
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.88e-1

QD
type: SiteQuality
SIO_000300: 1.222e1

VQSLOD
type: SiteQuality
SIO_000300: 6.46e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.97e-1

FS
type: SiteQuality
SIO_000300: 3.746e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

DP
type: SiteQuality
SIO_000300: 9.11221e5

GenotypeQuality
all individuals: 720
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1707
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1230
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2382
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 350
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1499
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.710571330824495e-4
allele num: 5846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22962
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2944
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.262e0

QD
type: SiteQuality
SIO_000300: 7.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.0422e1

VQSLOD
type: SiteQuality
SIO_000300: -1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.15882e5

GenotypeQuality
all individuals: 30880
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.25e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 429
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1702
bin: 3.25e1
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GenotypeQuality
all individuals: 232
bin: 8.25e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 3.223986459256871e-4
allele num: 24814
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.591954022988506e-4
allele num: 2784
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6202
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-3

QD
type: SiteQuality
SIO_000300: 1.218e1

DP
type: SiteQuality
SIO_000300: 9.44479e5

FS
type: SiteQuality
SIO_000300: 2.097e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

GenotypeQuality
all individuals: 253
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 171
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GenotypeQuality
all individuals: 1632
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 5.162622612287042e-4
allele num: 3874
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10526
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.441753171856978e-4
allele num: 6936
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3668
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 6.205e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.258e1

VQSLOD
type: SiteQuality
SIO_000300: 8.9e-1

DP
type: SiteQuality
SIO_000300: 1.020681e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.57e-1

GenotypeQuality
all individuals: 24954
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variant carriers: 0

GenotypeQuality
all individuals: 23360
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 238
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GenotypeQuality
all individuals: 391
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4338
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.810725729383327e-5
allele num: 35578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.120022e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.6e-3

FS
type: SiteQuality
SIO_000300: 2.276e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.493e0

MQRankSum
type: SiteQuality
SIO_000300: -3.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

GenotypeQuality
all individuals: 853
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 50
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GenotypeQuality
all individuals: 171
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GenotypeQuality
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GenotypeQuality
all individuals: 2383
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24523
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variant carriers: 1

GenotypeQuality
all individuals: 383
bin: 7.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5724
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.288659793814433e-4
allele num: 7760
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 4.333506673600277e-4
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4446
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5770
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

FS
type: SiteQuality
SIO_000300: 5.971e0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

QD
type: SiteQuality
SIO_000300: 1.239e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.635e0

DP
type: SiteQuality
SIO_000300: 1.13373e6

GenotypeQuality
all individuals: 23991
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variant carriers: 0

GenotypeQuality
all individuals: 174
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 517
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GenotypeQuality
all individuals: 1048
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GenotypeQuality
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GenotypeQuality
all individuals: 411
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GenotypeQuality
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GenotypeQuality
all individuals: 410
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GenotypeQuality
all individuals: 2380
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GenotypeQuality
all individuals: 253
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5970
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.265182186234818e-4
allele num: 7904
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6110
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38082
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

DP
type: SiteQuality
SIO_000300: 1.152041e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.376e0

VQSLOD
type: SiteQuality
SIO_000300: -2.104e0

MQRankSum
type: SiteQuality
SIO_000300: -1.588e0

QD
type: SiteQuality
SIO_000300: 7.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 23932
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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
all individuals: 213
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GenotypeQuality
all individuals: 412
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.59794242959576e-5
allele num: 38492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6026
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11778
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.738e0

VQSLOD
type: SiteQuality
SIO_000300: 4.82e-1

DP
type: SiteQuality
SIO_000300: 1.157453e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-1

QD
type: SiteQuality
SIO_000300: 8.880000000000001e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 661
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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: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38742
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6232
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11806
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.258811681772407e-4
allele num: 7944
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6070
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.51e-1

QD
type: SiteQuality
SIO_000300: 4.44e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.527e0

MQRankSum
type: SiteQuality
SIO_000300: -1.041e0

DP
type: SiteQuality
SIO_000300: 1.158673e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.96e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 230
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.706251088281386e-5
allele num: 11486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5672
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36778
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.22e0

VQSLOD
type: SiteQuality
SIO_000300: -1.761e-1

DP
type: SiteQuality
SIO_000300: 1.089316e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.015e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 351
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GenotypeQuality
all individuals: 19726
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5636
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

MQ
type: SiteQuality
SIO_000300: 5.93e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

QD
type: SiteQuality
SIO_000300: 1.67e1

DP
type: SiteQuality
SIO_000300: 1.080152e6

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 1.387e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.246e0

VQSLOD
type: SiteQuality
SIO_000300: 2.77e-1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11042
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.926029962546817e-5
allele num: 34176
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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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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num of homozygotes: 0

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

FS
type: SiteQuality
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QD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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DP
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MQ
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ClippingRankSum
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SIO_000300: 3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e-1

InbreedingCoeff
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SIO_000300: 6.8e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

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

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 4116
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 34176
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 frequency: 3.943217665615142e-4
allele num: 5072
num of homozygotes: 0

DP
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VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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MQRankSum
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QD
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ClippingRankSum
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MQ
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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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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 2.08073241781107e-4
allele num: 4806
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 count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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FS
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DP
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BaseQRankSum
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MQRankSum
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VQSLOD
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MQ
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 3.086800839609829e-5
allele num: 32396
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Other
type: Population
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.53067e5

VQSLOD
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
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FS
type: SiteQuality
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BaseQRankSum
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MQRankSum
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SIO_000300: -1.43e-1

MQ
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 4646
num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
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Other
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 3.114294612270321e-5
allele num: 32110
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.49e-1

FS
type: SiteQuality
SIO_000300: 1.805e0

InbreedingCoeff
type: SiteQuality
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MQRankSum
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DP
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

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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GenotypeQuality
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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: 4524
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 4752
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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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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South Asian
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allele num: 10574
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.12e-2

FS
type: SiteQuality
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ClippingRankSum
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MQRankSum
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MQ
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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DP
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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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variant carriers: 16

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4592
num of homozygotes: 0

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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num of homozygotes: 0

African
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allele frequency: 2.217622708456535e-3
allele num: 6764
num of homozygotes: 0

European (Non-Finnish)
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South Asian
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Other
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allele num: 528
num of homozygotes: 0

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

East Asian
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allele num: 4190
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
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African
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 28578
num of homozygotes: 0

Latino
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

BaseQRankSum
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VQSLOD
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MQ
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QD
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InbreedingCoeff
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DP
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ClippingRankSum
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ReadPosRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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allele num: 28046
num of homozygotes: 0

QD
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DP
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VQSLOD
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FS
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ClippingRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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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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Latino
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 5.379236148466918e-5
allele num: 18590
num of homozygotes: 0

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

MQRankSum
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SIO_000300: -8.95e-1

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

South Asian
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allele frequency: 1.182312603452353e-4
allele num: 8458
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 18544
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4946
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2630
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 380
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2168
num of homozygotes: 0

BaseQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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QD
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MQ
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FS
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -7.36e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66514
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10376
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 (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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allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

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

DP
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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FS
type: SiteQuality
SIO_000300: 1.237e0

QD
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.93e0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66646
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 count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
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: 8654
num of homozygotes: 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
allele num: 902
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MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

FS
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.556e0

VQSLOD
type: SiteQuality
SIO_000300: 5.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.54e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.178e1

GenotypeQuality
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variant carriers: 1

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16480
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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.59578e6

QD
type: SiteQuality
SIO_000300: 1.083e1

MQRankSum
type: SiteQuality
SIO_000300: -1.127e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.055e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

FS
type: SiteQuality
SIO_000300: 3.088e0

VQSLOD
type: SiteQuality
SIO_000300: -1.232e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.011e0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

European (Finnish)
type: Population
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: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

InbreedingCoeff
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QD
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MQRankSum
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MQ
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 6.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.525e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 906
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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
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South Asian
type: Population
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
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QD
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
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MQRankSum
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DP
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ClippingRankSum
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MQ
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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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

Other
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African
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European (Finnish)
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South Asian
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East Asian
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allele num: 8654
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QD
type: SiteQuality
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DP
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MQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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FS
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VQSLOD
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ReadPosRankSum
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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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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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South Asian
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East Asian
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ReadPosRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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MQ
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ClippingRankSum
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VQSLOD
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FS
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MQRankSum
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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African
type: Population
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Other
type: Population
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Latino
type: Population
allele count: 0
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num of homozygotes: 0

South Asian
type: Population
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MQ
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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DP
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FS
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VQSLOD
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MQRankSum
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ClippingRankSum
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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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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.247797158784391e-4
allele num: 66732
num of homozygotes: 0

Latino
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East Asian
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Other
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allele num: 908
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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South Asian
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InbreedingCoeff
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MQ
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FS
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BaseQRankSum
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QD
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VQSLOD
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MQRankSum
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ClippingRankSum
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DP
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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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European (Finnish)
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Other
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Latino
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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allele num: 66734
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South Asian
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African
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ClippingRankSum
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InbreedingCoeff
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DP
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VQSLOD
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MQ
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BaseQRankSum
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QD
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MQRankSum
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FS
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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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African
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European (Finnish)
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Latino
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South Asian
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European (Non-Finnish)
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Other
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East Asian
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DP
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MQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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VQSLOD
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MQ
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ClippingRankSum
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BaseQRankSum
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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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European (Non-Finnish)
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East Asian
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South Asian
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African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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MQ
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QD
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InbreedingCoeff
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VQSLOD
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele 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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South Asian
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Other
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Latino
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East Asian
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European (Non-Finnish)
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MQ
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ReadPosRankSum
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FS
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QD
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DP
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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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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Other
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num of homozygotes: 0

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

European (Non-Finnish)
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Other
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East Asian
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South Asian
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African
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European (Finnish)
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MQ
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InbreedingCoeff
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ReadPosRankSum
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FS
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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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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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South Asian
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Latino
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European (Non-Finnish)
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African
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East Asian
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European (Finnish)
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FS
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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QD
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MQ
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MQRankSum
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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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African
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European (Finnish)
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Latino
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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MQ
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InbreedingCoeff
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QD
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FS
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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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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European (Non-Finnish)
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European (Finnish)
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South Asian
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African
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Other
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FS
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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MQRankSum
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ReadPosRankSum
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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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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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MQ
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FS
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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DP
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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Latino
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African
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East Asian
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European (Finnish)
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ClippingRankSum
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VQSLOD
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MQRankSum
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QD
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InbreedingCoeff
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FS
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DP
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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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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MQ
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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QD
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DP
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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East Asian
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Other
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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FS
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DP
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QD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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Latino
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South Asian
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European (Finnish)
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Other
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VQSLOD
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FS
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QD
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InbreedingCoeff
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MQRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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MQ
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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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Latino
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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InbreedingCoeff
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FS
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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MQRankSum
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DP
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ReadPosRankSum
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QD
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Latino
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South Asian
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African
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European (Non-Finnish)
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MQ
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BaseQRankSum
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DP
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InbreedingCoeff
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FS
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VQSLOD
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QD
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MQRankSum
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ReadPosRankSum
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.9e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

QD
type: SiteQuality
SIO_000300: 1.115e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.29e-1

DP
type: SiteQuality
SIO_000300: 2.57977e6

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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bin: 7.25e1
variant carriers: 0

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.891e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.263e1

BaseQRankSum
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SIO_000300: 1.29e0

DP
type: SiteQuality
SIO_000300: 2.579056e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.558e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
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: 10402
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
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QD
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ClippingRankSum
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SIO_000300: -3.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e-1

FS
type: SiteQuality
SIO_000300: 7.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.879999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

DP
type: SiteQuality
SIO_000300: 2.578494e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8648
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

FS
type: SiteQuality
SIO_000300: 8.380000000000001e0

DP
type: SiteQuality
SIO_000300: 2.578347e6

MQRankSum
type: SiteQuality
SIO_000300: -9.96e-1

BaseQRankSum
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SIO_000300: -5.673e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.54e-1

QD
type: SiteQuality
SIO_000300: 1.137e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.763e-1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.845414343395501e-4
allele num: 10402
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 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)
type: Population
allele count: 70
allele frequency: 1.049317943336831e-3
allele num: 66710
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.15e0

QD
type: SiteQuality
SIO_000300: 1.342e1

FS
type: SiteQuality
SIO_000300: 5.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.41e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.5787e6

MQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49734656552634e-5
allele num: 66706
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.368e0

DP
type: SiteQuality
SIO_000300: 2.572845e6

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

FS
type: SiteQuality
SIO_000300: 1.262e0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: -6.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

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: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.572845e6

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

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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East Asian
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MQ
type: SiteQuality
SIO_000300: 5.972e1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8640
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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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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

Latino
type: Population
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 (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: 66702
num of homozygotes: 0

East Asian
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African
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allele frequency: 9.615384615384615e-5
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Other
type: Population
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
type: SiteQuality
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VQSLOD
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MQRankSum
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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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bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
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 frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: 1.18e-2

MQRankSum
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DP
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ReadPosRankSum
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VQSLOD
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FS
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QD
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MQ
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
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SIO_000300: 1.58e-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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bin: 9.75e1
variant carriers: 2

African
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allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8636
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: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.501e0

DP
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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MQRankSum
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SIO_000300: -2.72e-1

MQ
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SIO_000300: 5.977e1

BaseQRankSum
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SIO_000300: 4.62e0

QD
type: SiteQuality
SIO_000300: 1.552e1

VQSLOD
type: SiteQuality
SIO_000300: 6.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000390050706592e-5
allele num: 66658
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

DP
type: SiteQuality
SIO_000300: 2.569277e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e-1

QD
type: SiteQuality
SIO_000300: 1.419e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 4028
bin: 8.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.500585076059888e-5
allele num: 66658
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e-1

FS
type: SiteQuality
SIO_000300: 1.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.04e0

DP
type: SiteQuality
SIO_000300: 2.569277e6

QD
type: SiteQuality
SIO_000300: 1.419e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
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: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00048007681229e-5
allele num: 66656
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.568613e6

VQSLOD
type: SiteQuality
SIO_000300: 8.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

FS
type: SiteQuality
SIO_000300: 1.772e0

QD
type: SiteQuality
SIO_000300: 1.426e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.26e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10374
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East Asian
type: Population
allele count: 1
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allele num: 8626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.895e1

VQSLOD
type: SiteQuality
SIO_000300: -1.609e0

QD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.2563e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.16e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10374
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.593809441466367e-4
allele num: 11566
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66598
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South Asian
type: Population
allele count: 1
allele frequency: 6.108735491753207e-5
allele num: 16370
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Other
type: Population
allele count: 0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 2.559036e6

MQRankSum
type: SiteQuality
SIO_000300: 6.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.81e-1

QD
type: SiteQuality
SIO_000300: 1.474e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 2
allele frequency: 1.929384526336099e-4
allele num: 10366
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16308
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006253006253006e-5
allele num: 66528
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.103e0

QD
type: SiteQuality
SIO_000300: 1.319e1

FS
type: SiteQuality
SIO_000300: 1.465e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.536116e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-3