19-1073657-CTCGCTGGCCCTGCAGAGTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073657
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073638
    reference: chr 19
allele count: 1
allele frequency: 1.210067763794773e-5
allele num: 82640
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: splice acceptor
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3518
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10292
  bin: 6.25e1
  variant carriers: 0
hgvs: c.699-13_704delGCTGGCCCTGCAGAGTGTC
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: CTCGCTGGCCCTGCAGAGTG
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

19-1073657-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073657
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073657
    reference: chr 19
allele count: 1
allele frequency: 1.210067763794773e-5
allele num: 82640
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.651-16C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.177+6163C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.663-16C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.76C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.300-16C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.699-16C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.171-16C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*137-16C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.732-16C>G
  variant of: http://identifiers.org/hgnc/17102
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3518
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

19-1073660-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073660
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073660
    reference: chr 19
allele count: 1
allele frequency: 1.22832014936373e-5
allele num: 81412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*137-13G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.699-13G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.300-13G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.732-13G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.177+6166G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.79G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.663-13G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.651-13G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.171-13G>A
  variant of: http://identifiers.org/hgnc/17102
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17875
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14860
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5826
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3484
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

19-1073670-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073670
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073670
    reference: chr 19
allele count: 1
allele frequency: 1.283894823336072e-5
allele num: 77888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.300-3C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.732-3C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.663-3C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.651-3C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.177+6176C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.171-3C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.699-3C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*137-3C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.89C>T
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 3.25e1
  variant carriers: 0
hgvs: c.699-3C>T
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum

19-1073679-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073679
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073679
    reference: chr 19
allele count: 7
allele frequency: 9.340805978115827e-5
allele num: 74940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.177+6185C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.657C>T
  hgvsp: ENST00000313093.2:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*143C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.306C>T
  hgvsp: ENST00000543365.1:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.738C>T
  hgvsp: ENST00000590214.1:c.738C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.705C>T
  hgvsp: ENST00000539243.2:c.705C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.669C>T
  hgvsp: ENST00000586866.1:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.177C>T
  hgvsp: ENST00000536472.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.98C>T
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14664
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9691
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2807
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Ser235Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

19-1073694-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073694
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073694
    reference: chr 19
allele count: 1
allele frequency: 1.43348623853211e-5
allele num: 69760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.672T>A
  hgvsp: ENST00000313093.2:c.672T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.684T>A
  hgvsp: ENST00000586866.1:c.684T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.177+6200T>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.192T>A
  hgvsp: ENST00000536472.1:c.192T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.113T>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.753T>A
  hgvsp: ENST00000590214.1:c.753T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.720T>A
  hgvsp: ENST00000539243.2:c.720T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.321T>A
  hgvsp: ENST00000543365.1:c.321T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*158T>A
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22924
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14683
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly240Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

19-1073714-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073714
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073714
    reference: chr 19
allele count: 1
allele frequency: 1.64766361299677e-5
allele num: 60692
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.212T>G
  hgvsp: ENSP00000445109.1:p.Leu71Arg
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*178T>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.341T>G
  hgvsp: ENSP00000438979.1:p.Leu114Arg
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.704T>G
  hgvsp: ENSP00000468615.1:p.Leu235Arg
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.773T>G
  hgvsp: ENSP00000466401.1:p.Leu258Arg
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.177+6220T>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.692T>G
  hgvsp: ENSP00000316772.2:p.Leu231Arg
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.740T>G
  hgvsp: ENSP00000439601.1:p.Leu247Arg
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.133T>G
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33359
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu247Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/19-1073715-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073715
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073715
    reference: chr 19
allele count: 1
allele frequency: 1.687308068707185e-5
allele num: 59266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.774C>A
  hgvsp: ENST00000590214.1:c.774C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.213C>A
  hgvsp: ENST00000536472.1:c.213C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.741C>A
  hgvsp: ENST00000539243.2:c.741C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.705C>A
  hgvsp: ENST00000586866.1:c.705C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.134C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.342C>A
  hgvsp: ENST00000543365.1:c.342C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*179C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.693C>A
  hgvsp: ENST00000313093.2:c.693C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.177+6221C>A
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14391
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu247Leu
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: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

19-1073730-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073730
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073730
    reference: chr 19
allele count: 7
allele frequency: 1.322201654640928e-4
allele num: 52942
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.756T>C
  hgvsp: ENST00000539243.2:c.756T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.177+6236T>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.789T>C
  hgvsp: ENST00000590214.1:c.789T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.149T>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.228T>C
  hgvsp: ENST00000536472.1:c.228T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*194T>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.708T>C
  hgvsp: ENST00000313093.2:c.708T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.720T>C
  hgvsp: ENST00000586866.1:c.720T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.357T>C
  hgvsp: ENST00000543365.1:c.357T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7791
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13585
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro252Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

19-1073731-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073731
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073731
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 51880
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.757G>A
  hgvsp: ENSP00000439601.1:p.Gly253Arg
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.150G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.721G>A
  hgvsp: ENSP00000468615.1:p.Gly241Arg
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.709G>A
  hgvsp: ENSP00000316772.2:p.Gly237Arg
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.229G>A
  hgvsp: ENSP00000445109.1:p.Gly77Arg
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*195G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.790G>A
  hgvsp: ENSP00000466401.1:p.Gly264Arg
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.177+6237G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.358G>A
  hgvsp: ENSP00000438979.1:p.Gly120Arg
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25597
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly253Arg
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD

19-1073736-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073736
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073736
    reference: chr 19
allele count: 1
allele frequency: 2.013125578773604e-5
allele num: 49674
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.155C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.177+6242C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.762C>G
  hgvsp: ENSP00000439601.1:p.Asp254Glu
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.363C>G
  hgvsp: ENSP00000438979.1:p.Asp121Glu
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*200C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.795C>G
  hgvsp: ENSP00000466401.1:p.Asp265Glu
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.234C>G
  hgvsp: ENSP00000445109.1:p.Asp78Glu
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.714C>G
  hgvsp: ENSP00000316772.2:p.Asp238Glu
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.726C>G
  hgvsp: ENSP00000468615.1:p.Asp242Glu
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12718
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9444
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp254Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

19-1073738-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073738
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073738
    reference: chr 19
allele count: 1
allele frequency: 2.070822116380203e-5
allele num: 48290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.797C>T
  hgvsp: ENSP00000466401.1:p.Ser266Leu
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.365C>T
  hgvsp: ENSP00000438979.1:p.Ser122Leu
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.157C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.177+6244C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.764C>T
  hgvsp: ENSP00000439601.1:p.Ser255Leu
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.716C>T
  hgvsp: ENSP00000316772.2:p.Ser239Leu
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.728C>T
  hgvsp: ENSP00000468615.1:p.Ser243Leu
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.236C>T
  hgvsp: ENSP00000445109.1:p.Ser79Leu
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*202C>T
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10042
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12402
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1882
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser255Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

19-1073739-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073739
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073739
    reference: chr 19
allele count: 2
allele frequency: 4.262756298222431e-5
allele num: 46918
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.798G>A
  hgvsp: ENST00000590214.1:c.798G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.717G>A
  hgvsp: ENST00000313093.2:c.717G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*203G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.177+6245G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.729G>A
  hgvsp: ENST00000586866.1:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.366G>A
  hgvsp: ENST00000543365.1:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.237G>A
  hgvsp: ENST00000536472.1:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.158G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.765G>A
  hgvsp: ENST00000539243.2:c.765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10799
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12042
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11055
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser255Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD

19-1073748-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073748
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073748
    reference: chr 19
allele count: 1
allele frequency: 2.322988292139008e-5
allele num: 43048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*209+3G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.164+3G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.177+6254G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.771+3G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.723+3G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.804+3G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.372+3G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.243+3G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.735+3G>A
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13923
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27505
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14296
  bin: 7.5e0
  variant carriers: 0
hgvs: c.771+3G>A
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

19-1073751-TGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073751
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073749
    reference: chr 19
allele count: 2
allele frequency: 4.754885645000238e-5
allele num: 42062
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.804+9_804+10delGG
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.243+9_243+10delGG
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.735+9_735+10delGG
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.164+9_164+10delGG
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.771+9_771+10delGG
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*209+9_*209+10delGG
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.723+9_723+10delGG
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.372+9_372+10delGG
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.177+6260_177+6261delGG
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10331
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14672
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23866
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 6.75e1
  variant carriers: 0
hgvs: c.771+9_771+10delGG
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: TGG
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

19-1073752-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073752
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073752
    reference: chr 19
allele count: 1
allele frequency: 2.405580947798893e-5
allele num: 41570
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.164+7G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.735+7G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*209+7G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.771+7G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.372+7G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.177+6258G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.243+7G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.804+7G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.723+7G>A
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23637
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15577
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 7.75e1
  variant carriers: 0
hgvs: c.771+7G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

19-1073755-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073755
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073755
    reference: chr 19
allele count: 1
allele frequency: 2.584246433739921e-5
allele num: 38696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.735+10G>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.164+10G>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.723+10G>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*209+10G>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.372+10G>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.771+10G>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.804+10G>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.243+10G>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.177+6261G>T
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 17103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8932
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22963
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17503
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23865
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

19-1073760-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073760
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073760
    reference: chr 19
allele count: 377
allele frequency: 1.05744418265455e-2
allele num: 35652
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.804+15C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.723+15C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.164+15C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.243+15C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.372+15C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.735+15C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*209+15C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.177+6266C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.771+15C>T
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 19026
  bin: 2.5e0
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 3.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7706
  bin: 1.25e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 22310
  bin: 7.5e0
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 2.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 3291
  bin: 6.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 7.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 6.75e1
  variant carriers: 16
num of homozygotes: 21
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

19-1073771-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073771
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073771
    reference: chr 19
allele count: 1
allele frequency: 3.313452617627568e-5
allele num: 30180
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.771+26T>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*209+26T>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.177+6277T>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.804+26T>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.735+26T>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.164+26T>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.372+26T>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.723+26T>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.243+26T>G
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3858
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16018
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-1073774-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073774
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073774
    reference: chr 19
allele count: 2
allele frequency: 6.781040211568454e-5
allele num: 29494
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.243+29G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.372+29G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.771+29G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.164+29G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.804+29G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.177+6280G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.723+29G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*209+29G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.735+29G>C
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24081
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19837
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3071
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24428
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

19-1073780-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073780
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073780
    reference: chr 19
allele count: 1
allele frequency: 3.681885125184094e-5
allele num: 27160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.164+35C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.771+35C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*209+35C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.804+35C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.735+35C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.243+35C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.723+35C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.372+35C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.177+6286C>T
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25290
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11271
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2879
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

19-1073782-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073782
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073782
    reference: chr 19
allele count: 1
allele frequency: 3.703429375601807e-5
allele num: 27002
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*209+37T>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.771+37T>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.372+37T>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.177+6288T>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.164+37T>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.735+37T>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.723+37T>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.804+37T>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.243+37T>G
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25550
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2866
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5465
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

19-1073788-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073788
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073788
    reference: chr 19
allele count: 1
allele frequency: 4.026089057089943e-5
allele num: 24838
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*209+43G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.771+43G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.177+6294G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.804+43G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.723+43G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.164+43G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.243+43G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.372+43G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.735+43G>A
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6772
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3491
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

19-1073791-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073791
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073791
    reference: chr 19
allele count: 1
allele frequency: 4.204153703859413e-5
allele num: 23786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.177+6297C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*209+46C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.243+46C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.735+46C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.723+46C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.164+46C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.771+46C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.804+46C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.372+46C>T
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25858
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4992
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/19-1073794-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073794
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073794
    reference: chr 19
allele count: 1
allele frequency: 4.191114836546522e-5
allele num: 23860
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.771+49C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.243+49C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.372+49C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.735+49C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.804+49C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.723+49C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*209+49C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.177+6300C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.164+49C>A
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25938
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6883
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6067
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

19-1073795-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073795
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073795
    reference: chr 19
allele count: 8
allele frequency: 3.354297693920335e-4
allele num: 23850
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.771+50C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.372+50C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.177+6301C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.243+50C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.164+50C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.723+50C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.735+50C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.804+50C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*209+50C>T
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19491
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25948
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6872
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2423
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-1073900-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073900
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073900
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 13780
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.724-47C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.244-47C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*210-47C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.772-47C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.805-47C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.165-47C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.736-47C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.373-47C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6354C>A
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14237
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34462
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4669
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

19-1073907-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073907
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073907
    reference: chr 19
allele count: 1
allele frequency: 7.407407407407407e-5
allele num: 13500
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.244-40C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.736-40C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.165-40C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.373-40C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.724-40C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6347C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.772-40C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.805-40C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*210-40C>T
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34457
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14481
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27613
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

19-1073909-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073909
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073909
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 13410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.165-38C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.805-38C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.736-38C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.244-38C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6345C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.373-38C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*210-38C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.772-38C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.724-38C>G
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14686
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3811
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5917
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27792
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/19-1073911-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073911
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073911
    reference: chr 19
allele count: 6
allele frequency: 4.475607936744741e-4
allele num: 13406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.724-36C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.772-36C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.244-36C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.805-36C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.373-36C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6343C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.736-36C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.165-36C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*210-36C>A
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34251
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14997
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3465
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 8.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum

19-1073912-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073912
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073912
    reference: chr 19
allele count: 1
allele frequency: 7.384433613941811e-5
allele num: 13542
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*210-35A>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.373-35A>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.165-35A>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.805-35A>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.772-35A>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.736-35A>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6342A>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.724-35A>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.244-35A>G
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15214
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34168
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3340
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28561
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

19-1073914-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073914
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073914
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 13536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6340G>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.244-33G>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.373-33G>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.736-33G>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*210-33G>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.724-33G>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.805-33G>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.165-33G>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.772-33G>T
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33959
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15595
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD

19-1073917-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073917
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073917
    reference: chr 19
allele count: 1
allele frequency: 7.385524372230428e-5
allele num: 13540
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.805-30G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.373-30G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.244-30G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.724-30G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.736-30G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.772-30G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*210-30G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.165-30G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6337G>C
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28825
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11562
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

19-1073931-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073931
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073931
    reference: chr 19
allele count: 1
allele frequency: 6.850253459377997e-5
allele num: 14598
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.244-16C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*210-16C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.772-16C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.165-16C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.724-16C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.736-16C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.805-16C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6323C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.373-16C>T
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22797
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26074
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19462
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

19-1073932-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073932
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073932
    reference: chr 19
allele count: 4
allele frequency: 2.649006622516556e-4
allele num: 15100
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.772-15G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.244-15G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*210-15G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.736-15G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.165-15G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.373-15G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.805-15G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.724-15G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6322G>A
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26978
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24193
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-1073933-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073933
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073933
    reference: chr 19
allele count: 3
allele frequency: 1.95873596239227e-4
allele num: 15316
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.724-14T>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6321T>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.772-14T>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.373-14T>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.244-14T>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.805-14T>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.165-14T>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.736-14T>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*210-14T>C
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24923
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

19-1073935-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073935
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073934
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 15688
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.736-10delC
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*210-10delC
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.772-10delC
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.165-10delC
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.373-10delC
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.724-10delC
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.244-10delC
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.805-10delC
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6317delC
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24650
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26627
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23304
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: TC
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

19-1073936-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073936
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073936
    reference: chr 19
allele count: 2
allele frequency: 1.262626262626263e-4
allele num: 15840
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.244-11C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.373-11C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.724-11C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.805-11C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.165-11C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.772-11C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6318C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*210-11C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.736-11C>G
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23885
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25314
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

19-1073936-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073936
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073936
    reference: chr 19
allele count: 1
allele frequency: 6.313131313131313e-5
allele num: 15840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.724-11C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*210-11C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.244-11C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.805-11C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.736-11C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.165-11C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.373-11C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.772-11C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6318C>T
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23885
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

19-1073937-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073937
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073937
    reference: chr 19
allele count: 1
allele frequency: 6.217358865953743e-5
allele num: 16084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6317C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.244-10C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.736-10C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*210-10C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.724-10C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.805-10C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.165-10C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.373-10C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.772-10C>T
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22818
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21761
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26429
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS

19-1073948-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073948
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073948
    reference: chr 19
allele count: 1
allele frequency: 4.94266508501384e-5
allele num: 20232
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.245C>G
  hgvsp: ENSP00000445109.1:p.Ser82Cys
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.166C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*211C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.773C>G
  hgvsp: ENSP00000439601.1:p.Ser258Cys
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.374C>G
  hgvsp: ENSP00000438979.1:p.Ser125Cys
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.725C>G
  hgvsp: ENSP00000316772.2:p.Ser242Cys
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6306C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.737C>G
  hgvsp: ENSP00000468615.1:p.Ser246Cys
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.806C>G
  hgvsp: ENSP00000466401.1:p.Ser269Cys
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34833
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14888
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser258Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-1073958-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073958
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073958
    reference: chr 19
allele count: 1
allele frequency: 4.208045783538125e-5
allele num: 23764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.735C>A
  hgvsp: ENSP00000316772.2:p.Ser245Arg
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6296C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.783C>A
  hgvsp: ENSP00000439601.1:p.Ser261Arg
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.255C>A
  hgvsp: ENSP00000445109.1:p.Ser85Arg
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.384C>A
  hgvsp: ENSP00000438979.1:p.Ser128Arg
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*221C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.747C>A
  hgvsp: ENSP00000468615.1:p.Ser249Arg
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.816C>A
  hgvsp: ENSP00000466401.1:p.Ser272Arg
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.176C>A
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36672
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11434
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2717
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser261Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

19-1073984-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073984
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073984
    reference: chr 19
allele count: 1
allele frequency: 2.840747684790637e-5
allele num: 35202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.281C>T
  hgvsp: ENSP00000445109.1:p.Thr94Met
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.410C>T
  hgvsp: ENSP00000438979.1:p.Thr137Met
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.842C>T
  hgvsp: ENSP00000466401.1:p.Thr281Met
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6270C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.809C>T
  hgvsp: ENSP00000439601.1:p.Thr270Met
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*247C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.773C>T
  hgvsp: ENSP00000468615.1:p.Thr258Met
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.761C>T
  hgvsp: ENSP00000316772.2:p.Thr254Met
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.202C>T
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6490
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6274
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr270Met
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/19-1073994-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1073994
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1073994
    reference: chr 19
allele count: 1
allele frequency: 2.432734880552717e-5
allele num: 41106
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.819C>A
  hgvsp: ENSP00000439601.1:p.Ser273Arg
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.852C>A
  hgvsp: ENSP00000466401.1:p.Ser284Arg
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.771C>A
  hgvsp: ENSP00000316772.2:p.Ser257Arg
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.291C>A
  hgvsp: ENSP00000445109.1:p.Ser97Arg
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6260C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.420C>A
  hgvsp: ENSP00000438979.1:p.Ser140Arg
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.783C>A
  hgvsp: ENSP00000468615.1:p.Ser261Arg
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.212C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*257C>A
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7302
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32644
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser273Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-1074000-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1074000
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1074000
    reference: chr 19
allele count: 68925
allele frequency: 7.900618982118295e-1
allele num: 87240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.218A>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.777A>T
  hgvsp: ENSP00000316772.2:p.Glu259Asp
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.426A>T
  hgvsp: ENSP00000438979.1:p.Glu142Asp
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.297A>T
  hgvsp: ENSP00000445109.1:p.Glu99Asp
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*263A>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6254A>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.789A>T
  hgvsp: ENSP00000468615.1:p.Glu263Asp
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.858A>T
  hgvsp: ENSP00000466401.1:p.Glu286Asp
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.825A>T
  hgvsp: ENSP00000439601.1:p.Glu275Asp
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 223
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.25e1
  variant carriers: 532
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 3.25e1
  variant carriers: 1443
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 2.25e1
  variant carriers: 6119
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 3.75e1
  variant carriers: 854
genotype depth: GenotypeDepth
  all individuals: 13419
  bin: 7.5e0
  variant carriers: 10633
genotype depth: GenotypeDepth
  all individuals: 18386
  bin: 1.25e1
  variant carriers: 17543
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 294
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 2.75e1
  variant carriers: 2780
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 2.5e0
  variant carriers: 1154
genotype depth: GenotypeDepth
  all individuals: 13087
  bin: 1.75e1
  variant carriers: 12826
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 1.25e1
  variant carriers: 889
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 7.25e1
  variant carriers: 829
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 4.25e1
  variant carriers: 2219
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 5.75e1
  variant carriers: 1479
hgvs: p.Glu275Asp
num of homozygotes: 26577
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

19-1074003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1074003
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1074003
    reference: chr 19
allele count: 1
allele frequency: 1.318217769575534e-5
allele num: 75860
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.221C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.828C>T
  hgvsp: ENST00000539243.2:c.828C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.861C>T
  hgvsp: ENST00000590214.1:c.861C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.429C>T
  hgvsp: ENST00000543365.1:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6251C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*266C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.792C>T
  hgvsp: ENST00000586866.1:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.300C>T
  hgvsp: ENST00000536472.1:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.780C>T
  hgvsp: ENST00000313093.2:c.780C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4472
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21333
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp276Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

19-1074009-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1074009
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1074009
    reference: chr 19
allele count: 47
allele frequency: 6.365286167014275e-4
allele num: 73838
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.834C>G
  hgvsp: ENSP00000439601.1:p.Asp278Glu
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.867C>G
  hgvsp: ENSP00000466401.1:p.Asp289Glu
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.786C>G
  hgvsp: ENSP00000316772.2:p.Asp262Glu
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6245C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.798C>G
  hgvsp: ENSP00000468615.1:p.Asp266Glu
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.306C>G
  hgvsp: ENSP00000445109.1:p.Asp102Glu
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.227C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*272C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.435C>G
  hgvsp: ENSP00000438979.1:p.Asp145Glu
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8081
  bin: 1.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 18817
  bin: 7.5e0
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21204
  bin: 1.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4457
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4687
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp278Glu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

19-1074010-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1074010
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1074010
    reference: chr 19
allele count: 12
allele frequency: 1.62817833980082e-4
allele num: 73702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.799G>A
  hgvsp: ENSP00000468615.1:p.Ala267Thr
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*273G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6244G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.868G>A
  hgvsp: ENSP00000466401.1:p.Ala290Thr
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.436G>A
  hgvsp: ENSP00000438979.1:p.Ala146Thr
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.787G>A
  hgvsp: ENSP00000316772.2:p.Ala263Thr
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.228G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.307G>A
  hgvsp: ENSP00000445109.1:p.Ala103Thr
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.835G>A
  hgvsp: ENSP00000439601.1:p.Ala279Thr
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18928
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8063
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21168
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7557
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5891
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala279Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

19-1074012-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1074012
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1074012
    reference: chr 19
allele count: 1
allele frequency: 1.36302919608538e-5
allele num: 73366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.870C>T
  hgvsp: ENST00000590214.1:c.870C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.230C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.789C>T
  hgvsp: ENST00000313093.2:c.789C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6242C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.837C>T
  hgvsp: ENST00000539243.2:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.309C>T
  hgvsp: ENST00000536472.1:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.438C>T
  hgvsp: ENST00000543365.1:c.438C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*275C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.801C>T
  hgvsp: ENST00000586866.1:c.801C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21081
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8040
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19086
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4382
  bin: 7.5e0
  variant carriers: 0
hgvs: c.837C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

19-1074013-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1074013
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1074013
    reference: chr 19
allele count: 1
allele frequency: 1.366306872523569e-5
allele num: 73190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*276G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.802G>A
  hgvsp: ENSP00000468615.1:p.Gly268Ser
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.838G>A
  hgvsp: ENSP00000439601.1:p.Gly280Ser
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.871G>A
  hgvsp: ENSP00000466401.1:p.Gly291Ser
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.790G>A
  hgvsp: ENSP00000316772.2:p.Gly264Ser
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.231G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.310G>A
  hgvsp: ENSP00000445109.1:p.Gly104Ser
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6241G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.439G>A
  hgvsp: ENSP00000438979.1:p.Gly147Ser
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21074
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7926
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7551
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly280Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-1074023-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1074023
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1074023
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 72380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.439+10C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.871+10C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.310+10C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.802+10C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.838+10C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*276+10C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.231+10C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6231C>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.790+10C>A
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19454
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21090
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8003
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4819
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4514
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

19-1074030-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1074030
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1074030
    reference: chr 19
allele count: 553
allele frequency: 7.669051977589172e-3
allele num: 72108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.802+17C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.871+17C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.790+17C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6224C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.838+17C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.231+17C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.310+17C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.439+17C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*276+17C>T
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 2.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 2.25e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19485
  bin: 7.5e0
  variant carriers: 141
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 1.75e1
  variant carriers: 158
genotype depth: GenotypeDepth
  all individuals: 20884
  bin: 1.25e1
  variant carriers: 239
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 4.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 8.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 4568
  bin: 3.75e1
  variant carriers: 3
num of homozygotes: 17
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

19-1074031-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1074031
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1074031
    reference: chr 19
allele count: 18
allele frequency: 2.499513983392118e-4
allele num: 72014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.310+18G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.790+18G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.838+18G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.231+18G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6223G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.802+18G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.871+18G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*276+18G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.439+18G>A
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20781
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7525
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19596
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21852
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

19-1074032-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1074032
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1074032
    reference: chr 19
allele count: 2
allele frequency: 2.76441643169127e-5
allele num: 72348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.790+19G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*276+19G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.802+19G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.310+19G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.871+19G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6222G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.231+19G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.838+19G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.439+19G>C
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6031
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4575
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7768
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

19-1074039-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1074039
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1074039
    reference: chr 19
allele count: 2
allele frequency: 2.706140232186832e-5
allele num: 73906
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*276+26G>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.802+26G>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6215G>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.871+26G>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.790+26G>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.310+26G>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.838+26G>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.231+26G>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.439+26G>T
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19463
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4006
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5860
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

19-1074047-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1074047
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1074047
    reference: chr 19
allele count: 1
allele frequency: 1.321562615636729e-5
allele num: 75668
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.310+34A>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6207A>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.871+34A>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.231+34A>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*276+34A>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.439+34A>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.838+34A>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.790+34A>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.802+34A>G
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17771
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5443
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23529
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

19-1074050-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1074050
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1074050
    reference: chr 19
allele count: 1
allele frequency: 1.304087008685219e-5
allele num: 76682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.310+37G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6204G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.838+37G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.802+37G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.871+37G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.439+37G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.790+37G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*276+37G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.231+37G>A
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5287
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3297
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

19-1074052-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1074052
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1074052
    reference: chr 19
allele count: 1
allele frequency: 1.305074128210482e-5
allele num: 76624
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.838+39T>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.871+39T>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.439+39T>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*276+39T>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.231+39T>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.802+39T>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.790+39T>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6202T>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.310+39T>C
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13057
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18798
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21904
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6229
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

19-1074056-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1074056
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1074056
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 78468
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*276+43C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.871+43C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.838+43C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.802+43C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.231+43C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.310+43C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.790+43C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6198C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.439+43C>T
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16617
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3306
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21739
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-1074058-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1074058
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1074058
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 79878
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.871+45A>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.802+45A>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.310+45A>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.439+45A>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.231+45A>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.838+45A>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*276+45A>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.790+45A>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6196A>C
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18003
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5877
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

19-1074060-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1074060
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1074060
    reference: chr 19
allele count: 1
allele frequency: 1.245485116452858e-5
allele num: 80290
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.839-43T>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6194T>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*277-43T>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.311-43T>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.232-43T>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.791-43T>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.872-43T>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.803-43T>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.440-43T>A
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15659
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17823
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13728
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4816
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

19-1074064-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1074064
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1074064
    reference: chr 19
allele count: 108324
allele frequency: 9.873486947644743e-1
allele num: 109712
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.232-39C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.311-39C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.791-39C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*277-39C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.839-39C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.440-39C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.872-39C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.803-39C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6190C>G
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 180
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 3.75e1
  variant carriers: 1950
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 10932
  bin: 1.25e1
  variant carriers: 10920
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 2.5e0
  variant carriers: 632
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.25e1
  variant carriers: 877
genotype depth: GenotypeDepth
  all individuals: 12853
  bin: 2.25e1
  variant carriers: 12846
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 379
genotype depth: GenotypeDepth
  all individuals: 15590
  bin: 1.75e1
  variant carriers: 15584
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 3.25e1
  variant carriers: 4070
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 7.5e0
  variant carriers: 4455
genotype depth: GenotypeDepth
  all individuals: 7854
  bin: 2.75e1
  variant carriers: 7852
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 3564
  bin: 7.75e1
  variant carriers: 3564
genotype quality: GenotypeQuality
  all individuals: 4556
  bin: 3.75e1
  variant carriers: 4554
genotype quality: GenotypeQuality
  all individuals: 2770
  bin: 4.25e1
  variant carriers: 2770
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 1.25e1
  variant carriers: 381
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 1.75e1
  variant carriers: 1214
genotype quality: GenotypeQuality
  all individuals: 6006
  bin: 4.75e1
  variant carriers: 6006
num of homozygotes: 53478
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

19-1074065-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1074065
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1074065
    reference: chr 19
allele count: 2
allele frequency: 1.858183439869184e-5
allele num: 107632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*277-38G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.803-38G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.872-38G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.440-38G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.791-38G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.839-38G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.311-38G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.232-38G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6189G>A
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4594
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8543
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-1074069-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1074069
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1074069
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 107204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.440-34C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.839-34C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.311-34C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.791-34C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*277-34C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.803-34C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6185C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.872-34C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.232-34C>G
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3505
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5096
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10646
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5014
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

19-1074070-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1074070
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1074070
    reference: chr 19
allele count: 2
allele frequency: 1.860915198094423e-5
allele num: 107474
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*277-33G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.440-33G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.232-33G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.839-33G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6184G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.791-33G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.872-33G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.311-33G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.803-33G>A
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12966
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3400
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12300
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2290
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

19-1074070-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1074070
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1074070
    reference: chr 19
allele count: 1
allele frequency: 9.304575990472114e-6
allele num: 107474
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.872-33G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.232-33G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*277-33G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.803-33G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.839-33G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.791-33G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.440-33G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.311-33G>C
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6184G>C
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11570
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12966
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2893
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ

19-1074080-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1074080
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1074080
    reference: chr 19
allele count: 1
allele frequency: 9.205560158335634e-6
allele num: 108630
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.311-23G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.791-23G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.440-23G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.872-23G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.232-23G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.839-23G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*277-23G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.803-23G>A
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6174G>A
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6882
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9508
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19077
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4342
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5490
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

19-1074087-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1074087
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1074087
    reference: chr 19
allele count: 70
allele frequency: 6.409434687860531e-4
allele num: 109214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6167C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.803-16C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.839-16C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.311-16C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.791-16C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.440-16C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.232-16C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.872-16C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*277-16C>T
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8637
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22720
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4909
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 10494
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5834
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

19-1074091-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1074091
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1074091
    reference: chr 19
allele count: 2
allele frequency: 1.817818254530912e-5
allele num: 110022
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.839-12C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6163C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.791-12C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.311-12C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.872-12C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*277-12C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.440-12C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.803-12C>G
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.232-12C>G
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24510
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11158
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3111
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23342
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

19-1074096-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1074096
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1074096
    reference: chr 19
allele count: 1
allele frequency: 8.978917501705995e-6
allele num: 111372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000586033
  gene symbol: HMHA1
  hgvsc: ENST00000586033.1:n.232-7C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000316772
  ensembl transcript: ENST00000313093
  gene symbol: HMHA1
  hgvsc: ENST00000313093.2:c.791-7C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl transcript: ENST00000591293
  gene symbol: HMHA1
  hgvsc: ENST00000591293.1:n.178-6158C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466365
  ensembl transcript: ENST00000587602
  gene symbol: HMHA1
  hgvsc: ENST00000587602.1:c.*277-7C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000439601
  ensembl transcript: ENST00000539243
  gene symbol: HMHA1
  hgvsc: ENST00000539243.2:c.839-7C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000466401
  ensembl transcript: ENST00000590214
  gene symbol: HMHA1
  hgvsc: ENST00000590214.1:c.872-7C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000445109
  ensembl transcript: ENST00000536472
  gene symbol: HMHA1
  hgvsc: ENST00000536472.1:c.311-7C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000468615
  ensembl transcript: ENST00000586866
  gene symbol: HMHA1
  hgvsc: ENST00000586866.1:c.803-7C>T
  variant of: http://identifiers.org/hgnc/17102
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180448
  ensembl protein: ENSP00000438979
  ensembl transcript: ENST00000543365
  gene symbol: HMHA1
  hgvsc: ENST00000543365.1:c.440-7C>T
  variant of: http://identifiers.org/hgnc/17102
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6724
  bin: 6.75e1
  variant carriers: 0
hgvs: c.839-7C>T
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 276
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2397
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1847
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 680
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25089
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3618
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 7.639419404125286e-5
allele num: 13090
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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MQ
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MQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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DP
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QD
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VQSLOD
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 2.2129768965212e-5
allele num: 45188
num of homozygotes: 0

East Asian
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South Asian
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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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European (Finnish)
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allele frequency: 0.0e0
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Other
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ClippingRankSum
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VQSLOD
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MQ
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FS
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InbreedingCoeff
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BaseQRankSum
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DP
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MQRankSum
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ReadPosRankSum
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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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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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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.247393024092053e-5
allele num: 44496
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 2.354381503978905e-5
allele num: 42474
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 596
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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FS
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MQ
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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QD
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DP
type: SiteQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2950
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 1.008403361344538e-3
allele num: 5950
num of homozygotes: 0

African
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East Asian
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allele frequency: 1.798561151079137e-4
allele num: 5560
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.686e0

ReadPosRankSum
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MQ
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BaseQRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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ClippingRankSum
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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GenotypeQuality
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GenotypeQuality
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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 frequency: 2.636018557570645e-5
allele num: 37936
num of homozygotes: 0

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

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

South Asian
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East Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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allele frequency: 2.490571408240234e-4
allele num: 28106
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5146
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.81e0

MQRankSum
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SIO_000300: -1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.74e-2

VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.047e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3652
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 27488
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3432
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1524
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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.83e-2

DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQRankSum
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SIO_000300: -9.22e-1

ReadPosRankSum
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BaseQRankSum
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MQ
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FS
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SIO_000300: 0.0e0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 1398
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4904
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3200
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3452
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.820293398533007e-5
allele num: 26176
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.398e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

MQ
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.98e-2

MQRankSum
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SIO_000300: -5.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.41e-1

QD
type: SiteQuality
SIO_000300: 1.536e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.96e-1

DP
type: SiteQuality
SIO_000300: 7.39867e5

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3048
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.945084424806691e-5
allele num: 25348
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1320
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.811e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.14e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 7.31789e5

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: -1.821e0

FS
type: SiteQuality
SIO_000300: 1.486e0

QD
type: SiteQuality
SIO_000300: 1.155e1

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 3.408316291751875e-4
allele num: 2934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.072987943955686e-5
allele num: 24552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1246
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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3170
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.28e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 7.22522e5

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.289e0

QD
type: SiteQuality
SIO_000300: 1.252e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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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

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 4.492362982929021e-5
allele num: 22260
num of homozygotes: 0

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

African
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Other
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East Asian
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European (Non-Finnish)
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allele frequency: 9.235315847801995e-5
allele num: 21656
num of homozygotes: 0

Latino
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South Asian
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allele num: 9600
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FS
type: SiteQuality
SIO_000300: 8.42e-1

DP
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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num of homozygotes: 0

African
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Latino
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European (Finnish)
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South Asian
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Other
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East Asian
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DP
type: SiteQuality
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QD
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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MQ
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FS
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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South Asian
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European (Non-Finnish)
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allele frequency: 5.103603143819537e-5
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Latino
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European (Finnish)
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African
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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DP
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InbreedingCoeff
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MQ
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FS
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SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.667e0

GenotypeQuality
all individuals: 420
bin: 8.75e1
variant carriers: 17

GenotypeQuality
all individuals: 2850
bin: 1.75e1
variant carriers: 15

GenotypeQuality
all individuals: 1206
bin: 2.5e0
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
variant carriers: 11

GenotypeQuality
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bin: 1.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1076
bin: 2.75e1
variant carriers: 10

GenotypeQuality
all individuals: 475
bin: 9.25e1
variant carriers: 22

GenotypeQuality
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bin: 8.25e1
variant carriers: 15

GenotypeQuality
all individuals: 682
bin: 7.25e1
variant carriers: 6

GenotypeQuality
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bin: 3.25e1
variant carriers: 16

GenotypeQuality
all individuals: 21180
bin: 2.25e1
variant carriers: 7

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 9

GenotypeQuality
all individuals: 207
bin: 3.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2129
bin: 9.75e1
variant carriers: 355

South Asian
type: Population
allele count: 2
allele frequency: 2.199736031676199e-4
allele num: 9092
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2188
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.448275862068965e-3
allele num: 290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.120197154699227e-4
allele num: 17854
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 7.869249394673124e-3
allele num: 1652
num of homozygotes: 0

African
type: Population
allele count: 359
allele frequency: 9.186284544524054e-2
allele num: 3908
num of homozygotes: 21

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

DP
type: SiteQuality
SIO_000300: 6.37487e5

FS
type: SiteQuality
SIO_000300: 6.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.45e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.465e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.13e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 27
bin: 5.75e1
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GenotypeQuality
all individuals: 667
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1150
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.146000458400183e-4
allele num: 8726
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.164e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.223e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.88911e5

FS
type: SiteQuality
SIO_000300: 1.868e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-2

GenotypeQuality
all individuals: 15441
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2451
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 44
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 735
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 8.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.410437235543018e-4
allele num: 14180
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.053e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.8154e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.66e-1

QD
type: SiteQuality
SIO_000300: 1.181e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
all individuals: 651
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5319
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 89
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variant carriers: 0

GenotypeQuality
all individuals: 405
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variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3134
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.898894154818325e-5
allele num: 12660
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.215e0

QD
type: SiteQuality
SIO_000300: 7.85e0

MQRankSum
type: SiteQuality
SIO_000300: 9.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 5.59642e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

GenotypeQuality
all individuals: 105
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 888
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variant carriers: 0

GenotypeQuality
all individuals: 264
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25580
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GenotypeQuality
all individuals: 651
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1380
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.201024327784891e-4
allele num: 3124
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12558
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.622e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

DP
type: SiteQuality
SIO_000300: 5.56095e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.509e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.85e-2

QD
type: SiteQuality
SIO_000300: 1.874e1

GenotypeQuality
all individuals: 482
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2527
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1838
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variant carriers: 1

GenotypeQuality
all individuals: 405
bin: 8.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2926
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 8.403361344537816e-4
allele num: 1190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.208e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.19e-2

FS
type: SiteQuality
SIO_000300: 3.67e0

VQSLOD
type: SiteQuality
SIO_000300: -7.272e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.296e0

DP
type: SiteQuality
SIO_000300: 5.3871e5

MQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2838
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1086
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.215362177929023e-4
allele num: 8228
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.34665e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.45e-2

QD
type: SiteQuality
SIO_000300: 1.198e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.485e0

GenotypeQuality
all individuals: 161
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 211
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GenotypeQuality
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GenotypeQuality
all individuals: 47
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GenotypeQuality
all individuals: 1840
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variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.423294383716548e-5
allele num: 10612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1100
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.359e0

VQSLOD
type: SiteQuality
SIO_000300: -1.992e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

MQRankSum
type: SiteQuality
SIO_000300: -8.93e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.834e0

DP
type: SiteQuality
SIO_000300: 5.34976e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.548e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.44e-2

QD
type: SiteQuality
SIO_000300: 1.417e1

GenotypeQuality
all individuals: 317
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4674
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GenotypeQuality
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bin: 8.25e1
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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bin: 6.75e1
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GenotypeQuality
all individuals: 407
bin: 8.75e1
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GenotypeQuality
all individuals: 885
bin: 7.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 6.596306068601583e-4
allele num: 10612
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 9.208103130755065e-4
allele num: 1086
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.354e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.44e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

DP
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SIO_000300: 5.35386e5

FS
type: SiteQuality
SIO_000300: 6.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

GenotypeQuality
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bin: 9.25e1
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: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 78
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4514
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.18e-2

QD
type: SiteQuality
SIO_000300: 1.655e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 3.12045e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.984e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.675603217158177e-4
allele num: 5968
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

DP
type: SiteQuality
SIO_000300: 3.13667e5

MQ
type: SiteQuality
SIO_000300: 5.829e1

FS
type: SiteQuality
SIO_000300: 6.262e0

QD
type: SiteQuality
SIO_000300: 1.143e1

VQSLOD
type: SiteQuality
SIO_000300: -1.027e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 122
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5956
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 84
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4362
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.48e1

DP
type: SiteQuality
SIO_000300: 3.15437e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.09e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.89e0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 427
bin: 9.75e1
variant carriers: 6

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.67779632721202e-4
allele num: 5990
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 5.747126436781609e-4
allele num: 1740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.320185614849188e-4
allele num: 4310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.18702e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.03e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.309e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.148e0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 5.912e1

FS
type: SiteQuality
SIO_000300: 5.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6032
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1744
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.27894257064722e-4
allele num: 4388
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.20659e5

FS
type: SiteQuality
SIO_000300: 2.632e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.98e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4392
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6022
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1744
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.92e-2

VQSLOD
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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SIO_000300: 7.31e-1

ClippingRankSum
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SIO_000300: 3.7e-2

BaseQRankSum
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MQ
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.174e1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.656726308813784e-4
allele num: 6036
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.28374e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.82e-2

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.524855138761818e-4
allele num: 6558
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1812
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

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

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

Other
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num of homozygotes: 0

ClippingRankSum
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SIO_000300: 9.370000000000001e-1

BaseQRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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MQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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DP
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Finnish)
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allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

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

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: 4
allele frequency: 5.918910920390648e-4
allele num: 6758
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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South Asian
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
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MQ
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BaseQRankSum
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QD
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VQSLOD
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 518
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.102522375915378e-4
allele num: 4916
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 540
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African
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allele frequency: 0.0e0
allele num: 1904
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East Asian
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Other
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allele frequency: 0.0e0
allele num: 140
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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 frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
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ClippingRankSum
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DP
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BaseQRankSum
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QD
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MQRankSum
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SIO_000300: -7.2e-1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.28e-2

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.400560224089636e-4
allele num: 7140
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 5062
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African
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East Asian
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allele frequency: 1.128668171557562e-3
allele num: 886
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.091e1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-2

DP
type: SiteQuality
SIO_000300: 4.13932e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 1908
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7140
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 5062
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 1
allele frequency: 1.798561151079137e-3
allele num: 556
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Other
type: Population
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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DP
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 7280
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Latino
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InbreedingCoeff
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ClippingRankSum
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QD
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MQ
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ReadPosRankSum
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VQSLOD
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MQRankSum
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DP
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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South Asian
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African
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Latino
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European (Finnish)
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Other
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InbreedingCoeff
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MQRankSum
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QD
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ReadPosRankSum
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MQ
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FS
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DP
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BaseQRankSum
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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Other
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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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ReadPosRankSum
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FS
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MQRankSum
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MQ
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QD
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VQSLOD
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InbreedingCoeff
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DP
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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Other
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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MQ
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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SIO_000300: -6.097e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

FS
type: SiteQuality
SIO_000300: 1.533e0

DP
type: SiteQuality
SIO_000300: 6.25566e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

QD
type: SiteQuality
SIO_000300: 6.74e0

GenotypeQuality
all individuals: 2228
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 286
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1662
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2415
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
all individuals: 449
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 9.25e1
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GenotypeQuality
all individuals: 1063
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6919
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 9.174311926605505e-4
allele num: 1090
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21698
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2646
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 350
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 6.67984e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.22e-2

QD
type: SiteQuality
SIO_000300: 3.02e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.554e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

GenotypeQuality
all individuals: 4664
bin: 3.75e1
variant carriers: 4587

GenotypeQuality
all individuals: 3897
bin: 4.75e1
variant carriers: 3868

GenotypeQuality
all individuals: 834
bin: 8.75e1
variant carriers: 832

GenotypeQuality
all individuals: 5413
bin: 2.25e1
variant carriers: 3572

GenotypeQuality
all individuals: 2442
bin: 1.75e1
variant carriers: 2328

GenotypeQuality
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bin: 5.25e1
variant carriers: 3290

GenotypeQuality
all individuals: 1148
bin: 7.5e0
variant carriers: 709

GenotypeQuality
all individuals: 962
bin: 9.25e1
variant carriers: 961

GenotypeQuality
all individuals: 1140
bin: 8.25e1
variant carriers: 1136

GenotypeQuality
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bin: 3.25e1
variant carriers: 4567

GenotypeQuality
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bin: 2.75e1
variant carriers: 2220

GenotypeQuality
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variant carriers: 1154

GenotypeQuality
all individuals: 1835
bin: 2.5e0
variant carriers: 224

GenotypeQuality
all individuals: 1645
bin: 6.75e1
variant carriers: 1593

GenotypeQuality
all individuals: 2633
bin: 6.25e1
variant carriers: 2121

GenotypeQuality
all individuals: 16310
bin: 9.75e1
variant carriers: 16294

Latino
type: Population
allele count: 7497
allele frequency: 8.978443113772455e-1
allele num: 8350
num of homozygotes: 3344

European (Finnish)
type: Population
allele count: 2814
allele frequency: 7.886771300448431e-1
allele num: 3568
num of homozygotes: 1060

African
type: Population
allele count: 6746
allele frequency: 9.18322896814593e-1
allele num: 7346
num of homozygotes: 3089

Other
type: Population
allele count: 515
allele frequency: 8.046875e-1
allele num: 640
num of homozygotes: 201

European (Non-Finnish)
type: Population
allele count: 37107
allele frequency: 7.725474683544303e-1
allele num: 48032
num of homozygotes: 13826

East Asian
type: Population
allele count: 4227
allele frequency: 7.078030810448761e-1
allele num: 5972
num of homozygotes: 1363

South Asian
type: Population
allele count: 10019
allele frequency: 7.515001500150015e-1
allele num: 13332
num of homozygotes: 3694

QD
type: SiteQuality
SIO_000300: 2.555e1

VQSLOD
type: SiteQuality
SIO_000300: 5.77e0

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

DP
type: SiteQuality
SIO_000300: 9.27764e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.85e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3982
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7323
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variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 860
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variant carriers: 0

GenotypeQuality
all individuals: 3051
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variant carriers: 0

GenotypeQuality
all individuals: 264
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variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
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variant carriers: 0

GenotypeQuality
all individuals: 1969
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variant carriers: 0

GenotypeQuality
all individuals: 5683
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6137
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 242
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1653
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42306
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.411843876177658e-5
allele num: 11888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2842
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6136
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5134
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6994
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.268e0

DP
type: SiteQuality
SIO_000300: 7.68644e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

QD
type: SiteQuality
SIO_000300: 3.171e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.753e0

GenotypeQuality
all individuals: 1845
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 309
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 390
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2295
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variant carriers: 4

GenotypeQuality
all individuals: 4289
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GenotypeQuality
all individuals: 3936
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variant carriers: 0

GenotypeQuality
all individuals: 1042
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variant carriers: 0

GenotypeQuality
all individuals: 7553
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GenotypeQuality
all individuals: 231
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GenotypeQuality
all individuals: 5854
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 20247
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variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 874
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variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 347
bin: 9.75e1
variant carriers: 52

GenotypeQuality
all individuals: 64
bin: 8.75e1
variant carriers: 5

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4970
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.798561151079137e-3
allele num: 556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 3.398718197708293e-4
allele num: 41192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 32
allele frequency: 1.158580738595221e-2
allele num: 2762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5928
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11660
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 6.332e0

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

QD
type: SiteQuality
SIO_000300: 1.518e1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 7.48599e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

GenotypeQuality
all individuals: 151
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4715
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 311
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variant carriers: 0

GenotypeQuality
all individuals: 963
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4593
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variant carriers: 0

GenotypeQuality
all individuals: 20821
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variant carriers: 0

GenotypeQuality
all individuals: 59
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GenotypeQuality
all individuals: 247
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GenotypeQuality
all individuals: 63
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GenotypeQuality
all individuals: 4348
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variant carriers: 0

GenotypeQuality
all individuals: 272
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GenotypeQuality
all individuals: 3464
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 303
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variant carriers: 10

GenotypeQuality
all individuals: 875
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GenotypeQuality
all individuals: 1799
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GenotypeQuality
all individuals: 1505
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.432261516758282e-5
allele num: 41114
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4972
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6720
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.861252115059222e-3
allele num: 5910
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2754
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.871e1

QD
type: SiteQuality
SIO_000300: 1.543e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

FS
type: SiteQuality
SIO_000300: 1.7725e1

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.498e0

DP
type: SiteQuality
SIO_000300: 7.47103e5

GenotypeQuality
all individuals: 843
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variant carriers: 0

GenotypeQuality
all individuals: 4649
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variant carriers: 0

GenotypeQuality
all individuals: 1746
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GenotypeQuality
all individuals: 5899
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GenotypeQuality
all individuals: 3125
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variant carriers: 0

GenotypeQuality
all individuals: 220
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GenotypeQuality
all individuals: 317
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GenotypeQuality
all individuals: 850
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GenotypeQuality
all individuals: 21252
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variant carriers: 0

GenotypeQuality
all individuals: 62
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GenotypeQuality
all individuals: 7576
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2213
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GenotypeQuality
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GenotypeQuality
all individuals: 146
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GenotypeQuality
all individuals: 294
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variant carriers: 1

GenotypeQuality
all individuals: 1507
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40956
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2740
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 8.608815426997245e-5
allele num: 11616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.005e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.892e0

QD
type: SiteQuality
SIO_000300: 1.284e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.165e0

MQRankSum
type: SiteQuality
SIO_000300: 8.65e-1

DP
type: SiteQuality
SIO_000300: 7.45084e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
all individuals: 21845
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1636
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GenotypeQuality
all individuals: 862
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GenotypeQuality
all individuals: 4672
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variant carriers: 1

GenotypeQuality
all individuals: 2155
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GenotypeQuality
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GenotypeQuality
all individuals: 486
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GenotypeQuality
all individuals: 4400
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GenotypeQuality
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GenotypeQuality
all individuals: 236
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GenotypeQuality
all individuals: 2543
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GenotypeQuality
all individuals: 647
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GenotypeQuality
all individuals: 59
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GenotypeQuality
all individuals: 143
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GenotypeQuality
all individuals: 5127
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GenotypeQuality
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GenotypeQuality
all individuals: 217
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variant carriers: 0

GenotypeQuality
all individuals: 5863
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40842
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.029220779220779e-4
allele num: 4928
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5828
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6666
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2732
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.156e0

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.778e0

FS
type: SiteQuality
SIO_000300: 2.56e0

QD
type: SiteQuality
SIO_000300: 2.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.16e-2

DP
type: SiteQuality
SIO_000300: 7.46487e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

GenotypeQuality
all individuals: 292
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2992
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 219
bin: 7.75e1
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GenotypeQuality
all individuals: 21478
bin: 2.25e1
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GenotypeQuality
all individuals: 1450
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7913
bin: 3.25e1
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GenotypeQuality
all individuals: 61
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GenotypeQuality
all individuals: 749
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GenotypeQuality
all individuals: 58
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GenotypeQuality
all individuals: 220
bin: 7.25e1
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GenotypeQuality
all individuals: 4094
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variant carriers: 0

GenotypeQuality
all individuals: 6137
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40424
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6656
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2706
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4926
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5664
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.009e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.107e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

QD
type: SiteQuality
SIO_000300: 8.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

DP
type: SiteQuality
SIO_000300: 7.32885e5

GenotypeQuality
all individuals: 737
bin: 5.25e1
variant carriers: 8

GenotypeQuality
all individuals: 7684
bin: 3.25e1
variant carriers: 6

GenotypeQuality
all individuals: 679
bin: 6.75e1
variant carriers: 6

GenotypeQuality
all individuals: 81
bin: 9.25e1
variant carriers: 20

GenotypeQuality
all individuals: 22057
bin: 2.25e1
variant carriers: 11

GenotypeQuality
all individuals: 6028
bin: 2.75e1
variant carriers: 8

GenotypeQuality
all individuals: 4337
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1311
bin: 4.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1856
bin: 1.25e1
variant carriers: 5

GenotypeQuality
all individuals: 771
bin: 9.75e1
variant carriers: 499

GenotypeQuality
all individuals: 2236
bin: 1.75e1
variant carriers: 9

GenotypeQuality
all individuals: 5160
bin: 6.25e1
variant carriers: 10

GenotypeQuality
all individuals: 212
bin: 7.25e1
variant carriers: 10

GenotypeQuality
all individuals: 152
bin: 8.25e1
variant carriers: 20

African
type: Population
allele count: 508
allele frequency: 8.90915468256752e-2
allele num: 5702
num of homozygotes: 17

South Asian
type: Population
allele count: 1
allele frequency: 8.846426043878273e-5
allele num: 11304
num of homozygotes: 0

Latino
type: Population
allele count: 31
allele frequency: 4.654654654654655e-3
allele num: 6660
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4910
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 2.232807383149747e-4
allele num: 40308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2680
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 7.352941176470588e-3
allele num: 544
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.08e0

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.42e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.35e1

DP
type: SiteQuality
SIO_000300: 7.40716e5

GenotypeQuality
all individuals: 2671
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4297
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5057
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7787
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4642
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1342
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1335
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 65
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 298
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 708
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2636
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.987750224081267e-4
allele num: 6694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.487562189054726e-5
allele num: 40200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4944
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 2.496433666191155e-3
allele num: 5608
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.845018450184502e-3
allele num: 542
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

FS
type: SiteQuality
SIO_000300: 1.919e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 7.40259e5

QD
type: SiteQuality
SIO_000300: 1.23e1

GenotypeQuality
all individuals: 4252
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1698
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6079
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5606
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40378
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2690
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4998
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.554923569143263e-4
allele num: 5626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.778e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.43469e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.04e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 1.166e1

GenotypeQuality
all individuals: 902
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3643
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1074
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7370
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7713
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 243
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.419315817486815e-5
allele num: 41334
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6872
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.680555555555556e-5
allele num: 11520
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2848
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.072e0

QD
type: SiteQuality
SIO_000300: 1.091e1

MQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

DP
type: SiteQuality
SIO_000300: 7.6996e5

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3055
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1084
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3392
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 281
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 870
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6528
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3008
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7032
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42386
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.734304543877905e-4
allele num: 5766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5234
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11680
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.49e-1

FS
type: SiteQuality
SIO_000300: 1.96e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.72e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.192e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 8.08262e5

QD
type: SiteQuality
SIO_000300: 1.766e1

GenotypeQuality
all individuals: 12247
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1160
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23146
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2920
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6306
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5321
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 313
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42928
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11774
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.71291538198013e-4
allele num: 5838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3092
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.621e0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.312e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.78e-1

DP
type: SiteQuality
SIO_000300: 8.2079e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.52e-1

GenotypeQuality
all individuals: 649
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3348
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5204
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1018
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1499
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1035
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 82
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10903
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3064
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11734
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.330350484712901e-5
allele num: 42912
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.693e0

VQSLOD
type: SiteQuality
SIO_000300: -1.177e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.901e1

FS
type: SiteQuality
SIO_000300: 4.31e0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

DP
type: SiteQuality
SIO_000300: 8.26347e5

QD
type: SiteQuality
SIO_000300: 1.839e1

GenotypeQuality
all individuals: 1020
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6117
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1251
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5152
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12502
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2591
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1357
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5966
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43932
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5488
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11852
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.338000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.423e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: -5.79e-1

DP
type: SiteQuality
SIO_000300: 8.46882e5

BaseQRankSum
type: SiteQuality
SIO_000300: -8.69e-1

FS
type: SiteQuality
SIO_000300: 9.558e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.248e0

GenotypeQuality
all individuals: 4936
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2359
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1494
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21384
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 394
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13824
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 9.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3330
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6068
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44692
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

DP
type: SiteQuality
SIO_000300: 8.65823e5

VQSLOD
type: SiteQuality
SIO_000300: -1.739e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

QD
type: SiteQuality
SIO_000300: 2.714e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 251
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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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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bin: 7.5e0
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
all individuals: 1361
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.22637812806127e-5
allele num: 44916
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6106
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5624
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.579e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

DP
type: SiteQuality
SIO_000300: 8.75033e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

QD
type: SiteQuality
SIO_000300: 7.7e0

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

GenotypeQuality
all individuals: 2111
bin: 7.25e1
variant carriers: 2111

GenotypeQuality
all individuals: 3465
bin: 3.25e1
variant carriers: 3462

GenotypeQuality
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bin: 5.25e1
variant carriers: 6159

GenotypeQuality
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bin: 5.75e1
variant carriers: 3035

GenotypeQuality
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bin: 8.75e1
variant carriers: 1203

GenotypeQuality
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bin: 2.25e1
variant carriers: 1926

GenotypeQuality
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bin: 7.5e0
variant carriers: 283

GenotypeQuality
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variant carriers: 2809

GenotypeQuality
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bin: 2.5e0
variant carriers: 17

GenotypeQuality
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bin: 6.75e1
variant carriers: 4811

GenotypeQuality
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bin: 9.25e1
variant carriers: 1873

GenotypeQuality
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bin: 2.75e1
variant carriers: 1343

GenotypeQuality
all individuals: 6898
bin: 9.75e1
variant carriers: 6898

GenotypeQuality
all individuals: 5589
bin: 6.25e1
variant carriers: 5585

European (Finnish)
type: Population
allele count: 5676
allele frequency: 9.971890372452565e-1
allele num: 5692
num of homozygotes: 2830

European (Non-Finnish)
type: Population
allele count: 58960
allele frequency: 9.826994233141104e-1
allele num: 59998
num of homozygotes: 28969

Latino
type: Population
allele count: 10714
allele frequency: 9.911193339500463e-1
allele num: 10810
num of homozygotes: 5309

South Asian
type: Population
allele count: 15235
allele frequency: 9.869784918372635e-1
allele num: 15436
num of homozygotes: 7519

East Asian
type: Population
allele count: 8088
allele frequency: 9.99752781211372e-1
allele num: 8090
num of homozygotes: 4043

Other
type: Population
allele count: 774
allele frequency: 9.822335025380711e-1
allele num: 788
num of homozygotes: 380

African
type: Population
allele count: 8877
allele frequency: 9.9763991908294e-1
allele num: 8898
num of homozygotes: 4428

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.06e0

FS
type: SiteQuality
SIO_000300: 5.94e-1

DP
type: SiteQuality
SIO_000300: 1.208019e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.58e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e-1

QD
type: SiteQuality
SIO_000300: 3.101e1

GenotypeQuality
all individuals: 1675
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2414
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5357
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.39420270178535e-5
allele num: 58924
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15026
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8706
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7956
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.192e1

FS
type: SiteQuality
SIO_000300: 9.021000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

DP
type: SiteQuality
SIO_000300: 1.177807e6

VQSLOD
type: SiteQuality
SIO_000300: -3.406e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.396e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

GenotypeQuality
all individuals: 6076
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variant carriers: 0

GenotypeQuality
all individuals: 922
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variant carriers: 0

GenotypeQuality
all individuals: 1243
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2994
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variant carriers: 0

GenotypeQuality
all individuals: 776
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variant carriers: 0

GenotypeQuality
all individuals: 2412
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7976
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8682
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58706
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14942
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10560
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

QD
type: SiteQuality
SIO_000300: 4.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

DP
type: SiteQuality
SIO_000300: 1.181419e6

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 3.01e0

VQSLOD
type: SiteQuality
SIO_000300: -2.25e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

GenotypeQuality
all individuals: 4990
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1226
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2044
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.699928602998674e-5
allele num: 58826
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.7825311942959e-4
allele num: 5610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7962
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

QD
type: SiteQuality
SIO_000300: 9.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 4.145e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.189923e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2418
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4615
bin: 4.75e1
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GenotypeQuality
all individuals: 1605
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58826
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.668444918644971e-5
allele num: 14996
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7962
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10604
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.145e0

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

DP
type: SiteQuality
SIO_000300: 1.189923e6

QD
type: SiteQuality
SIO_000300: 9.57e0

VQSLOD
type: SiteQuality
SIO_000300: 2.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3037
bin: 2.75e1
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: 1010
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variant carriers: 0

GenotypeQuality
all individuals: 1848
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variant carriers: 0

GenotypeQuality
all individuals: 1981
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.242236024844721e-4
allele num: 8050
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10680
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.05e-1

DP
type: SiteQuality
SIO_000300: 1.253385e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.507e0

MQRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

FS
type: SiteQuality
SIO_000300: 2.139e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

QD
type: SiteQuality
SIO_000300: 1.091e1

GenotypeQuality
all individuals: 6057
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 879
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 960
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GenotypeQuality
all individuals: 1343
bin: 4.75e1
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GenotypeQuality
all individuals: 20865
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GenotypeQuality
all individuals: 2543
bin: 9.75e1
variant carriers: 67

GenotypeQuality
all individuals: 1075
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5758
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.985965841387528e-4
allele num: 15106
num of homozygotes: 0

East Asian
type: Population
allele count: 66
allele frequency: 8.164275111331025e-3
allele num: 8084
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59828
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8888
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.282051282051282e-3
allele num: 780
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.295086e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.05e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.195e1

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

GenotypeQuality
all individuals: 151
bin: 2.5e0
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GenotypeQuality
all individuals: 920
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5751
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3093
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2387
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2349
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2511
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2176
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2728
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6226
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.574621959237344e-5
allele num: 15210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5840
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8982
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.659971448491086e-5
allele num: 60242
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.3e-1

QD
type: SiteQuality
SIO_000300: 1.067e1

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

FS
type: SiteQuality
SIO_000300: 1.472e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.659e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.326286e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.14e0