3-28360777-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28360777
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28360777
    reference: chr 3
allele count: 1
allele frequency: 6.591957811470006e-5
allele num: 15170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*146-223C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.347-223C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.524-223C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.111-223C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.186G>A
  hgvsp: ENSP00000403133.1:p.Ser63Asn
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.201-223C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.361-223C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.285-223C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3273C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.220-223C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.179-223C>T
  variant of: http://identifiers.org/hgnc/28783
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser63Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

3-28360791-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28360791
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28360791
    reference: chr 3
allele count: 1
allele frequency: 6.485925541574782e-5
allele num: 15418
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.220-209A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.172T>C
  hgvsp: ENST00000429369.1:c.172T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.361-209A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.285-209A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.201-209A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.524-209A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3287A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.111-209A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.179-209A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.347-209A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*146-209A>G
  variant of: http://identifiers.org/hgnc/28783
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn58Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

3-28360795-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28360795
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28360795
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 15502
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.201-205T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.179-205T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.285-205T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*146-205T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.220-205T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.524-205T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3291T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.168A>G
  hgvsp: ENSP00000403133.1:p.Gln57Arg
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.111-205T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.347-205T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.361-205T>C
  variant of: http://identifiers.org/hgnc/28783
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30441
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln57Arg
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

3-28360823-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28360823
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28360823
    reference: chr 3
allele count: 1
allele frequency: 5.990893841361131e-5
allele num: 16692
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.179-177T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3319T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.285-177T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*146-177T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.111-177T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.220-177T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.361-177T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-19A>G
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.524-177T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.201-177T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.347-177T>C
  variant of: http://identifiers.org/hgnc/28783
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33384
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11087
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-28360835-T-TGGGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28360835
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28360839
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 17978
alternate allele: TGGGG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3331_3332insGGGG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-32_159-31insCCCC
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.347-165_347-164insGGGG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.220-165_220-164insGGGG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*146-165_*146-164insGGGG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.201-165_201-164insGGGG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.524-165_524-164insGGGG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.361-165_361-164insGGGG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.179-165_179-164insGGGG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.285-165_285-164insGGGG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.111-165_111-164insGGGG
  variant of: http://identifiers.org/hgnc/28783
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18245
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28733
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

3-28360838-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28360838
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28360838
    reference: chr 3
allele count: 1
allele frequency: 5.443658138268917e-5
allele num: 18370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3334G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.111-162G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.285-162G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.524-162G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.361-162G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.201-162G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*146-162G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.347-162G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.220-162G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.179-162G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-34C>T
  variant of: http://identifiers.org/hgnc/24002
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19895
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27350
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

3-28360843-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28360843
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28360843
    reference: chr 3
allele count: 1
allele frequency: 5.073566717402334e-5
allele num: 19710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.220-157C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3339C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-39G>A
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.201-157C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*146-157C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.111-157C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.347-157C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.285-157C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.361-157C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.524-157C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.179-157C>T
  variant of: http://identifiers.org/hgnc/28783
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24497
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22987
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

3-28360854-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28360854
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28360852
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 23266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3351_3352delAG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.361-145_361-144delAG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*146-145_*146-144delAG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.220-145_220-144delAG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-52_159-51delCT
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.201-145_201-144delAG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.524-145_524-144delAG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.111-145_111-144delAG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.347-145_347-144delAG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.179-145_179-144delAG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.285-145_285-144delAG
  variant of: http://identifiers.org/hgnc/28783
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30209
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16754
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: CAG
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

3-28360954-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28360954
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28360954
    reference: chr 3
allele count: 2
allele frequency: 1.691618032648228e-5
allele num: 118230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.179-46C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-150G>A
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.524-46C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.361-46C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.201-46C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.347-46C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.220-46C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*146-46C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3450C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.111-46C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.285-46C>T
  variant of: http://identifiers.org/hgnc/28783
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

3-28360957-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28360957
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28360957
    reference: chr 3
allele count: 1
allele frequency: 8.452656669991378e-6
allele num: 118306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-153C>T
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.285-43G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.179-43G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.111-43G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.220-43G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.347-43G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*146-43G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.361-43G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3453G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.201-43G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.524-43G>A
  variant of: http://identifiers.org/hgnc/28783
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8503
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 8.75e1
  variant carriers: 0
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: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD

3-28360961-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28360961
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28360961
    reference: chr 3
allele count: 1
allele frequency: 8.449942540390725e-6
allele num: 118344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.524-39G>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3457G>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*146-39G>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.201-39G>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-157C>A
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.347-39G>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.285-39G>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.361-39G>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.179-39G>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.111-39G>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.220-39G>T
  variant of: http://identifiers.org/hgnc/28783
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9011
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

3-28361001-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361001
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361001
    reference: chr 3
allele count: 1
allele frequency: 8.373105584861425e-6
allele num: 119430
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.221T>C
  hgvsp: ENSP00000411302.1:p.Tyr75His
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.348T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*147T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.362T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.202T>C
  hgvsp: ENSP00000418348.1:p.Tyr68His
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.180T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.286T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.525T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.112T>C
  hgvsp: ENSP00000404581.1:p.Tyr38His
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3497T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-197A>G
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr68His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

3-28361004-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361004
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361004
    reference: chr 3
allele count: 1
allele frequency: 8.364001338240215e-6
allele num: 119560
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.115A>G
  hgvsp: ENSP00000404581.1:p.Asn39Asp
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.365A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.183A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.351A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.289A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.528A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.224A>G
  hgvsp: ENSP00000411302.1:p.Asn76Asp
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*150A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3500A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.205A>G
  hgvsp: ENSP00000418348.1:p.Asn69Asp
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-200T>C
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn69Asp
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum

3-28361021-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361021
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361021
    reference: chr 3
allele count: 1
allele frequency: 8.335695113615524e-6
allele num: 119966
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.241T>C
  hgvsp: ENST00000418849.1:c.241T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3517T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.222T>C
  hgvsp: ENST00000466830.1:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-217A>G
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.306T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.382T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.200T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.545T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*167T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.368T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.132T>C
  hgvsp: ENST00000423894.1:c.132T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28783
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr74Tyr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

3-28361029-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361029
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361029
    reference: chr 3
allele count: 1
allele frequency: 8.328891257995735e-6
allele num: 120064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.376G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.314G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*175G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-225C>T
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.208G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.230G>A
  hgvsp: ENSP00000418348.1:p.Cys77Tyr
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.553G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.249G>A
  hgvsp: ENSP00000411302.1:p.Cys84Tyr
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.140G>A
  hgvsp: ENSP00000404581.1:p.Cys47Tyr
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.390G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3525G>A
  variant of: http://identifiers.org/hgnc/28783
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys77Tyr
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/3-28361030-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361030
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361030
    reference: chr 3
allele count: 1
allele frequency: 8.327781479013991e-6
allele num: 120080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.250C>A
  hgvsp: ENSP00000411302.1:p.Cys84Ter
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.377C>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.209C>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3526C>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.231C>A
  hgvsp: ENSP00000418348.1:p.Cys77Ter
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.141C>A
  hgvsp: ENSP00000404581.1:p.Cys47Ter
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*176C>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.391C>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.315C>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-226G>T
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.554C>A
  variant of: http://identifiers.org/hgnc/28783
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys77Ter
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

3-28361031-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361031
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361031
    reference: chr 3
allele count: 1
allele frequency: 8.326671995736744e-6
allele num: 120096
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*177A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.232A>G
  hgvsp: ENSP00000418348.1:p.Lys78Glu
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.555A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3527A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.392A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.378A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.142A>G
  hgvsp: ENSP00000404581.1:p.Lys48Glu
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.251A>G
  hgvsp: ENSP00000411302.1:p.Lys85Glu
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-227T>C
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.316A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.210A>G
  variant of: http://identifiers.org/hgnc/28783
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys78Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ

3-28361035-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361035
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361034
    reference: chr 3
allele count: 1
allele frequency: 8.324731111185109e-6
allele num: 120124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.257delG
  hgvsp: ENSP00000411302.1:p.Glu87AsnfsTer3
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.384delG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.238delG
  hgvsp: ENSP00000418348.1:p.Glu80AsnfsTer3
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.398delG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.148delG
  hgvsp: ENSP00000404581.1:p.Glu50AsnfsTer3
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.561delG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*183delG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.322delG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-232delC
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3533delG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.216delG
  variant of: http://identifiers.org/hgnc/28783
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu80AsnfsTer3
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: TG
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ

3-28361042-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361042
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361042
    reference: chr 3
allele count: 11
allele frequency: 9.15491785541888e-5
allele num: 120154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*188C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.566C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.389C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-238G>A
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.327C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.262C>T
  hgvsp: ENST00000418849.1:c.262C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.153C>T
  hgvsp: ENST00000423894.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.403C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.221C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.243C>T
  hgvsp: ENST00000466830.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3538C>T
  variant of: http://identifiers.org/hgnc/28783
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8509
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr81Tyr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/3-28361046-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361046
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361046
    reference: chr 3
allele count: 25
allele frequency: 2.08038611966381e-4
allele num: 120170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.393A>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.247A>C
  hgvsp: ENSP00000418348.1:p.Lys83Gln
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.266A>C
  hgvsp: ENSP00000411302.1:p.Lys90Gln
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.407A>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.157A>C
  hgvsp: ENSP00000404581.1:p.Lys53Gln
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.225A>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3542A>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.331A>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-242T>G
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*192A>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.570A>C
  variant of: http://identifiers.org/hgnc/28783
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Lys83Gln
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/3-28361057-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361057
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361057
    reference: chr 3
allele count: 2
allele frequency: 1.663561352142667e-5
allele num: 120224
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.236A>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.258A>C
  hgvsp: ENSP00000418348.1:p.Glu86Asp
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.277A>C
  hgvsp: ENSP00000411302.1:p.Glu93Asp
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.404A>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.168A>C
  hgvsp: ENSP00000404581.1:p.Glu56Asp
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.581A>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-253T>G
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.418A>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3553A>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*203A>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.342A>C
  variant of: http://identifiers.org/hgnc/28783
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu86Asp
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

3-28361058-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361058
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361058
    reference: chr 3
allele count: 1
allele frequency: 8.318775476249896e-6
allele num: 120210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.169G>A
  hgvsp: ENSP00000404581.1:p.Glu57Lys
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.419G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.278G>A
  hgvsp: ENSP00000411302.1:p.Glu94Lys
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.405G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.259G>A
  hgvsp: ENSP00000418348.1:p.Glu87Lys
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.582G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.343G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*204G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.237G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-254C>T
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3554G>A
  variant of: http://identifiers.org/hgnc/28783
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu87Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

3-28361060-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361060
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361060
    reference: chr 3
allele count: 1
allele frequency: 8.317806760713336e-6
allele num: 120224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.280A>T
  hgvsp: ENSP00000411302.1:p.Glu94Asp
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3556A>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.239A>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.421A>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.345A>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.584A>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.261A>T
  hgvsp: ENSP00000418348.1:p.Glu87Asp
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*206A>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-256T>A
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.171A>T
  hgvsp: ENSP00000404581.1:p.Glu57Asp
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.407A>T
  variant of: http://identifiers.org/hgnc/28783
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu87Asp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: MQ

3-28361071-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361071
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361071
    reference: chr 3
allele count: 1
allele frequency: 8.319882856049386e-6
allele num: 120194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*217C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.250C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-267G>A
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.418C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3567C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.291C>T
  hgvsp: ENSP00000411302.1:p.Thr98Ile
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.272C>T
  hgvsp: ENSP00000418348.1:p.Thr91Ile
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.432C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.356C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.595C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.182C>T
  hgvsp: ENSP00000404581.1:p.Thr61Ile
  variant of: http://identifiers.org/hgnc/28783
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr91Ile
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum

3-28361071-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361071
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361069
    reference: chr 3
allele count: 1
allele frequency: 8.319882856049386e-6
allele num: 120194
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.419_420delTG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.357_358delTG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.433_434delTG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3568_3569delTG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.251_252delTG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-269_159-268delCA
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*218_*219delTG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.183_184delTG
  hgvsp: ENSP00000404581.1:p.Gly62AsnfsTer26
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.273_274delTG
  hgvsp: ENSP00000418348.1:p.Gly92AsnfsTer26
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.292_293delTG
  hgvsp: ENSP00000411302.1:p.Gly99AsnfsTer26
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.596_597delTG
  variant of: http://identifiers.org/hgnc/28783
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8508
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly92AsnfsTer26
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: CTG
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

3-28361072-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361072
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361072
    reference: chr 3
allele count: 1
allele frequency: 8.320159747067144e-6
allele num: 120190
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.292T>C
  hgvsp: ENST00000418849.1:c.292T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-268A>G
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.273T>C
  hgvsp: ENST00000466830.1:c.273T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3568T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.183T>C
  hgvsp: ENST00000423894.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*218T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.433T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.357T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.251T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.419T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.596T>C
  variant of: http://identifiers.org/hgnc/28783
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr91Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

3-28361073-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361073
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361073
    reference: chr 3
allele count: 1
allele frequency: 8.320021299254527e-6
allele num: 120192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.597G>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.184G>C
  hgvsp: ENSP00000404581.1:p.Gly62Arg
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.274G>C
  hgvsp: ENSP00000418348.1:p.Gly92Arg
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.293G>C
  hgvsp: ENSP00000411302.1:p.Gly99Arg
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.420G>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.358G>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.434G>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*219G>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3569G>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.252G>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-269C>G
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly92Arg
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

3-28361077-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361077
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361077
    reference: chr 3
allele count: 1
allele frequency: 8.319190709127816e-6
allele num: 120204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.438T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.278T>C
  hgvsp: ENSP00000418348.1:p.Ile93Thr
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.601T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3573T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.297T>C
  hgvsp: ENSP00000411302.1:p.Ile100Thr
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.424T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.256T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.362T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.188T>C
  hgvsp: ENSP00000404581.1:p.Ile63Thr
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*223T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-273A>G
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7309
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile93Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-28361093-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361093
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361093
    reference: chr 3
allele count: 1
allele frequency: 8.330834083108401e-6
allele num: 120036
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.378G>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.617G>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.440G>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.294G>C
  hgvsp: ENSP00000418348.1:p.Arg98Ser
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.204G>C
  hgvsp: ENSP00000404581.1:p.Arg68Ser
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*239G>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.454G>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3589G>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.313G>C
  hgvsp: ENSP00000411302.1:p.Arg105Ser
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.272G>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-289C>G
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg98Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

3-28361095-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361095
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361095
    reference: chr 3
allele count: 11
allele frequency: 9.165902841429881e-5
allele num: 120010
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.456T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.315T>C
  hgvsp: ENSP00000411302.1:p.Leu106Pro
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.442T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.206T>C
  hgvsp: ENSP00000404581.1:p.Leu69Pro
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*241T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.380T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.619T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.274T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.296T>C
  hgvsp: ENSP00000418348.1:p.Leu99Pro
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3591T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-291A>G
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3762
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9848
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu99Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

3-28361095-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361095
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361095
    reference: chr 3
allele count: 2
allele frequency: 1.666527789350887e-5
allele num: 120010
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.456T>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.442T>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.380T>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.296T>G
  hgvsp: ENSP00000418348.1:p.Leu99Arg
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.274T>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.315T>G
  hgvsp: ENSP00000411302.1:p.Leu106Arg
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.619T>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.206T>G
  hgvsp: ENSP00000404581.1:p.Leu69Arg
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3591T>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*241T>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-291A>C
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9848
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu99Arg
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

3-28361097-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361097
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361097
    reference: chr 3
allele count: 1
allele frequency: 8.340979230961715e-6
allele num: 119890
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*243C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.208C>T
  hgvsp: ENSP00000404581.1:p.Gln70Ter
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.621C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.298C>T
  hgvsp: ENSP00000418348.1:p.Gln100Ter
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.382C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.317C>T
  hgvsp: ENSP00000411302.1:p.Gln107Ter
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.458C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.276C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-293G>A
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.444C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3593C>T
  variant of: http://identifiers.org/hgnc/28783
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln100Ter
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

3-28361104-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361104
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361104
    reference: chr 3
allele count: 1
allele frequency: 8.349615082744685e-6
allele num: 119766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3600T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.305T>C
  hgvsp: ENSP00000418348.1:p.Leu102Pro
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.389T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.451T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.215T>C
  hgvsp: ENSP00000404581.1:p.Leu72Pro
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.283T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.324T>C
  hgvsp: ENSP00000411302.1:p.Leu109Pro
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.465T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.628T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*250T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-300A>G
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu102Pro
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

3-28361109-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361109
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361109
    reference: chr 3
allele count: 1
allele frequency: 8.368901163277262e-6
allele num: 119490
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.456A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.329A>G
  hgvsp: ENSP00000411302.1:p.Thr111Ala
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.394A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.310A>G
  hgvsp: ENSP00000418348.1:p.Thr104Ala
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.288A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.470A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*255A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-305T>C
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.220A>G
  hgvsp: ENSP00000404581.1:p.Thr74Ala
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.633A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3605A>G
  variant of: http://identifiers.org/hgnc/28783
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr104Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

3-28361121-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361121
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361121
    reference: chr 3
allele count: 1
allele frequency: 8.40463263350759e-6
allele num: 118982
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.*1G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.468G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.*1G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.300G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*267G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*1G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-317C>T
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.482G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.406G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.645G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3617G>A
  variant of: http://identifiers.org/hgnc/28783
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

3-28361138-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361138
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361138
    reference: chr 3
allele count: 1
allele frequency: 8.451370812345762e-6
allele num: 118324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3634A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.*18A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.*18A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.317A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.662A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.485A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*18A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.423A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*284A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.499A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-334T>C
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8482
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/3-28361141-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361141
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361140
    reference: chr 3
allele count: 2
allele frequency: 1.693222032205083e-5
allele num: 118118
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.666delA
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*22delA
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-338delT
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.*22delA
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3638delA
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.321delA
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.489delA
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.427delA
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.*22delA
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*288delA
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.503delA
  variant of: http://identifiers.org/hgnc/28783
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8477
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: CA
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

3-28361142-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361142
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361141
    reference: chr 3
allele count: 1
allele frequency: 8.467257116729607e-6
allele num: 118102
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*24delG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-339delC
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.429delG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.*24delG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.491delG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.668delG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3640delG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.323delG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*290delG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.505delG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.*24delG
  variant of: http://identifiers.org/hgnc/28783
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: AG
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

3-28361151-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361151
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361151
    reference: chr 3
allele count: 1
allele frequency: 8.489396743467409e-6
allele num: 117794
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.675A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.436A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*31A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.*31A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.498A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.330A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.512A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-347T>C
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*297A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3647A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.*31A>G
  variant of: http://identifiers.org/hgnc/28783
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3756
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4060
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

3-28361152-A-ATAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361152
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361155
    reference: chr 3
allele count: 1
allele frequency: 8.498342823149486e-6
allele num: 117670
alternate allele: ATAT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.515_517dupATT
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.439_441dupATT
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.501_503dupATT
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.*34_*36dupATT
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*34_*36dupATT
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.*34_*36dupATT
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.333_335dupATT
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*300_*302dupATT
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.678_680dupATT
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-351_159-349dupATA
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3650_3652dupATT
  variant of: http://identifiers.org/hgnc/28783
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

3-28361161-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361161
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361161
    reference: chr 3
allele count: 1
allele frequency: 8.545109633756601e-6
allele num: 117026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.508G>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*307G>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.*41G>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*41G>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3657G>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.446G>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.*41G>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-357C>A
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.685G>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.522G>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.340G>T
  variant of: http://identifiers.org/hgnc/28783
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

3-28361167-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361167
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361166
    reference: chr 3
allele count: 1
allele frequency: 8.571477551300294e-6
allele num: 116666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.532delT
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-364delA
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3667delT
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*51delT
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.350delT
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.*51delT
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*317delT
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.*51delT
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.518delT
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.695delT
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.456delT
  variant of: http://identifiers.org/hgnc/28783
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23384
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: AT
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

3-28361171-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28361171
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28361171
    reference: chr 3
allele count: 2
allele frequency: 1.720074995269794e-5
allele num: 116274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000404581
  ensembl transcript: ENST00000423894
  gene symbol: CMC1
  hgvsc: ENST00000423894.1:c.*51T>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*51T>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000477739
  gene symbol: CMC1
  hgvsc: ENST00000477739.1:n.3667T>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000482499
  gene symbol: CMC1
  hgvsc: ENST00000482499.1:n.350T>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000396610
  gene symbol: CMC1
  hgvsc: ENST00000396610.2:n.532T>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000334960
  ensembl transcript: ENST00000334841
  gene symbol: CMC1
  hgvsc: ENST00000334841.6:c.*317T>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000411302
  ensembl transcript: ENST00000418849
  gene symbol: CMC1
  hgvsc: ENST00000418849.1:c.*51T>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000495428
  gene symbol: CMC1
  hgvsc: ENST00000495428.1:n.518T>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000469102
  gene symbol: CMC1
  hgvsc: ENST00000469102.1:n.695T>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.159-367A>C
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187118
  ensembl transcript: ENST00000467644
  gene symbol: CMC1
  hgvsc: ENST00000467644.1:n.456T>G
  variant of: http://identifiers.org/hgnc/28783
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

3-28365488-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28365488
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28365488
    reference: chr 3
allele count: 1
allele frequency: 8.875792164450678e-6
allele num: 112666
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163512
  ensembl transcript: ENST00000295748
  gene symbol: AZI2
  hgvsc: ENST00000295748.3:n.1483T>C
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000419371
  ensembl transcript: ENST00000479665
  gene symbol: AZI2
  hgvsc: ENST00000479665.1:c.*45T>C
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*4368A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.158+2835T>C
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9862
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3276
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3325
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7299
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  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: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

3-28365489-AAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28365489
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28365487
    reference: chr 3
allele count: 1
allele frequency: 8.876895217128857e-6
allele num: 112652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163512
  ensembl transcript: ENST00000295748
  gene symbol: AZI2
  hgvsc: ENST00000295748.3:n.1480_1481delCT
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*4373_*4374delGA
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000419371
  ensembl transcript: ENST00000479665
  gene symbol: AZI2
  hgvsc: ENST00000479665.1:c.*42_*43delCT
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.158+2832_158+2833delCT
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15554
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4655
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7298
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9868
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3275
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2589
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: AAG
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

3-28365494-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28365494
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28365494
    reference: chr 3
allele count: 7
allele frequency: 6.207214556804881e-5
allele num: 112772
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.158+2829T>C
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000419371
  ensembl transcript: ENST00000479665
  gene symbol: AZI2
  hgvsc: ENST00000479665.1:c.*39T>C
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*4374A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163512
  ensembl transcript: ENST00000295748
  gene symbol: AZI2
  hgvsc: ENST00000295748.3:n.1477T>C
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15557
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4676
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15026
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2780
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9874
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

3-28365494-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28365494
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28365494
    reference: chr 3
allele count: 1
allele frequency: 8.867449366864115e-6
allele num: 112772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.158+2829T>A
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*4374A>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000419371
  ensembl transcript: ENST00000479665
  gene symbol: AZI2
  hgvsc: ENST00000479665.1:c.*39T>A
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163512
  ensembl transcript: ENST00000295748
  gene symbol: AZI2
  hgvsc: ENST00000295748.3:n.1477T>A
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4652
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2780
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3276
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7298
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum

3-28365495-TAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28365495
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28365493
    reference: chr 3
allele count: 1
allele frequency: 8.864776696275021e-6
allele num: 112806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163512
  ensembl transcript: ENST00000295748
  gene symbol: AZI2
  hgvsc: ENST00000295748.3:n.1474_1475delTT
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000419371
  ensembl transcript: ENST00000479665
  gene symbol: AZI2
  hgvsc: ENST00000479665.1:c.*36_*37delTT
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*4376_*4377delAA
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.158+2826_158+2827delTT
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4658
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22164
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7292
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: TAA
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

3-28365507-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28365507
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28365507
    reference: chr 3
allele count: 1
allele frequency: 8.817253601848096e-6
allele num: 113414
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*4387T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.158+2816A>G
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000419371
  ensembl transcript: ENST00000479665
  gene symbol: AZI2
  hgvsc: ENST00000479665.1:c.*26A>G
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163512
  ensembl transcript: ENST00000295748
  gene symbol: AZI2
  hgvsc: ENST00000295748.3:n.1464A>G
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4661
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7290
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9905
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

3-28365508-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28365508
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28365508
    reference: chr 3
allele count: 2
allele frequency: 1.763388527394241e-5
allele num: 113418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.158+2815C>T
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163512
  ensembl transcript: ENST00000295748
  gene symbol: AZI2
  hgvsc: ENST00000295748.3:n.1463C>T
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*4388G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000419371
  ensembl transcript: ENST00000479665
  gene symbol: AZI2
  hgvsc: ENST00000479665.1:c.*25C>T
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22773
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7289
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4657
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3270
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

3-28365513-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28365513
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28365513
    reference: chr 3
allele count: 1
allele frequency: 8.788427398801258e-6
allele num: 113786
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000419371
  ensembl transcript: ENST00000479665
  gene symbol: AZI2
  hgvsc: ENST00000479665.1:c.*20T>A
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*4393A>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.158+2810T>A
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163512
  ensembl transcript: ENST00000295748
  gene symbol: AZI2
  hgvsc: ENST00000295748.3:n.1458T>A
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8204
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3330
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22999
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7290
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4661
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9929
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

3-28365516-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28365516
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28365516
    reference: chr 3
allele count: 2
allele frequency: 1.755217383672968e-5
allele num: 113946
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163512
  ensembl transcript: ENST00000295748
  gene symbol: AZI2
  hgvsc: ENST00000295748.3:n.1455G>A
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000419371
  ensembl transcript: ENST00000479665
  gene symbol: AZI2
  hgvsc: ENST00000479665.1:c.*17G>A
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*4396C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.158+2807G>A
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 9934
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genotype quality: GenotypeQuality
  all individuals: 1367
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genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4656
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-28365519-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28365519
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28365519
    reference: chr 3
allele count: 1
allele frequency: 8.728288382648164e-6
allele num: 114570
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.158+2804C>A
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*4399G>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000419371
  ensembl transcript: ENST00000479665
  gene symbol: AZI2
  hgvsc: ENST00000479665.1:c.*14C>A
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163512
  ensembl transcript: ENST00000295748
  gene symbol: AZI2
  hgvsc: ENST00000295748.3:n.1452C>A
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23650
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3333
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7287
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
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genotype quality: GenotypeQuality
  all individuals: 2127
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genotype quality: GenotypeQuality
  all individuals: 69
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genotype quality: GenotypeQuality
  all individuals: 4659
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genotype quality: GenotypeQuality
  all individuals: 511
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3273
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/3-28365535-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28365535
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28365535
    reference: chr 3
allele count: 1
allele frequency: 8.523114687031229e-6
allele num: 117328
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: stop_lost
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000419371
  ensembl transcript: ENST00000479665
  gene symbol: AZI2
  hgvsc: ENST00000479665.1:c.1177T>G
  hgvsp: ENSP00000419371.1:p.Ter393GluextTer24
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*4415A>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.158+2788T>G
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163512
  ensembl transcript: ENST00000295748
  gene symbol: AZI2
  hgvsc: ENST00000295748.3:n.1436T>G
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10048
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genotype quality: GenotypeQuality
  all individuals: 7288
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25379
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3349
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ter393GluextTer24
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

3-28365541-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28365541
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28365541
    reference: chr 3
allele count: 3
allele frequency: 2.534768575629045e-5
allele num: 118354
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*4421T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000419371
  ensembl transcript: ENST00000479665
  gene symbol: AZI2
  hgvsc: ENST00000479665.1:c.1171A>G
  hgvsp: ENSP00000419371.1:p.Lys391Glu
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.158+2782A>G
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163512
  ensembl transcript: ENST00000295748
  gene symbol: AZI2
  hgvsc: ENST00000295748.3:n.1430A>G
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7287
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 26059
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3279
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3357
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys391Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

3-28365557-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28365557
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28365556
    reference: chr 3
allele count: 1
allele frequency: 8.320298199487469e-6
allele num: 120188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.158+2765delA
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*4439delT
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163512
  ensembl transcript: ENST00000295748
  gene symbol: AZI2
  hgvsc: ENST00000295748.3:n.1413delA
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000419371
  ensembl transcript: ENST00000479665
  gene symbol: AZI2
  hgvsc: ENST00000479665.1:c.1154delA
  hgvsp: ENSP00000419371.1:p.Asn385IlefsTer41
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 8217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10189
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3280
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4682
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn385IlefsTer41
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: AT
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

3-28365559-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28365559
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28365559
    reference: chr 3
allele count: 2
allele frequency: 1.662620955674525e-5
allele num: 120292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.158+2764A>C
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000419371
  ensembl transcript: ENST00000479665
  gene symbol: AZI2
  hgvsc: ENST00000479665.1:c.1153A>C
  hgvsp: ENSP00000419371.1:p.Asn385His
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*4439T>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163512
  ensembl transcript: ENST00000295748
  gene symbol: AZI2
  hgvsc: ENST00000295748.3:n.1412A>C
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3383
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10199
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27465
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7285
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn385His
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/3-28365570-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28365570
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28365570
    reference: chr 3
allele count: 3
allele frequency: 2.485295335929086e-5
allele num: 120710
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163512
  ensembl transcript: ENST00000295748
  gene symbol: AZI2
  hgvsc: ENST00000295748.3:n.1401T>G
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000419371
  ensembl transcript: ENST00000479665
  gene symbol: AZI2
  hgvsc: ENST00000479665.1:c.1142T>G
  hgvsp: ENSP00000419371.1:p.Leu381Trp
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.158+2753T>G
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*4450A>C
  variant of: http://identifiers.org/hgnc/28783
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7283
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27757
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4694
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3284
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu381Trp
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

3-28365581-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28365581
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28365581
    reference: chr 3
allele count: 1
allele frequency: 8.272393368849475e-6
allele num: 120884
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000419371
  ensembl transcript: ENST00000479665
  gene symbol: AZI2
  hgvsc: ENST00000479665.1:c.1131A>G
  hgvsp: ENST00000479665.1:c.1131A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*4461T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.158+2742A>G
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163512
  ensembl transcript: ENST00000295748
  gene symbol: AZI2
  hgvsc: ENST00000295748.3:n.1390A>G
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27874
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3391
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10250
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7280
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4692
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro377Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

3-28365585-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28365585
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28365585
    reference: chr 3
allele count: 1
allele frequency: 8.269109913008963e-6
allele num: 120932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.158+2738C>T
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163512
  ensembl transcript: ENST00000295748
  gene symbol: AZI2
  hgvsc: ENST00000295748.3:n.1386C>T
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000419371
  ensembl transcript: ENST00000479665
  gene symbol: AZI2
  hgvsc: ENST00000479665.1:c.1127C>T
  hgvsp: ENSP00000419371.1:p.Pro376Leu
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*4465G>A
  variant of: http://identifiers.org/hgnc/28783
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4693
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7279
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27877
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3392
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10251
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro376Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

3-28365589-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28365589
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28365589
    reference: chr 3
allele count: 7
allele frequency: 5.786845673092821e-5
allele num: 120964
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163512
  ensembl transcript: ENST00000295748
  gene symbol: AZI2
  hgvsc: ENST00000295748.3:n.1382C>G
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000419371
  ensembl transcript: ENST00000479665
  gene symbol: AZI2
  hgvsc: ENST00000479665.1:c.1123C>G
  hgvsp: ENSP00000419371.1:p.Leu375Val
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.158+2734C>G
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*4469G>C
  variant of: http://identifiers.org/hgnc/28783
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27918
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4693
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3285
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3394
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7279
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10251
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu375Val
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

3-28365591-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28365591
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28365591
    reference: chr 3
allele count: 1
allele frequency: 8.266512358435975e-6
allele num: 120970
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163512
  ensembl transcript: ENST00000295748
  gene symbol: AZI2
  hgvsc: ENST00000295748.3:n.1380A>G
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*4471T>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000419371
  ensembl transcript: ENST00000479665
  gene symbol: AZI2
  hgvsc: ENST00000479665.1:c.1121A>G
  hgvsp: ENSP00000419371.1:p.Asn374Ser
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.158+2732A>G
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3394
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7272
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4694
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10254
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27928
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn374Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

3-28365592-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28365592
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28365591
    reference: chr 3
allele count: 1
allele frequency: 8.265965712774223e-6
allele num: 120978
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*4475delG
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000419371
  ensembl transcript: ENST00000479665
  gene symbol: AZI2
  hgvsc: ENST00000479665.1:c.1119delC
  hgvsp: ENSP00000419371.1:p.Asn374ThrfsTer52
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.158+2730delC
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163512
  ensembl transcript: ENST00000295748
  gene symbol: AZI2
  hgvsc: ENST00000295748.3:n.1378delC
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3282
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3394
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4693
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7271
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn374ThrfsTer52
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: TG
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-28365598-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28365598
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28365598
    reference: chr 3
allele count: 1
allele frequency: 8.264326209484141e-6
allele num: 121002
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000419371
  ensembl transcript: ENST00000479665
  gene symbol: AZI2
  hgvsc: ENST00000479665.1:c.1114T>C
  hgvsp: ENST00000479665.1:c.1114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.158+2725T>C
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*4478A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163512
  ensembl transcript: ENST00000295748
  gene symbol: AZI2
  hgvsc: ENST00000295748.3:n.1373T>C
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10267
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3284
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3394
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7271
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu372Leu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

3-28365600-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28365600
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28365600
    reference: chr 3
allele count: 2
allele frequency: 1.652892561983471e-5
allele num: 121000
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000419371
  ensembl transcript: ENST00000479665
  gene symbol: AZI2
  hgvsc: ENST00000479665.1:c.1112C>T
  hgvsp: ENSP00000419371.1:p.Pro371Leu
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*4480G>A
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.158+2723C>T
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163512
  ensembl transcript: ENST00000295748
  gene symbol: AZI2
  hgvsc: ENST00000295748.3:n.1371C>T
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3395
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4693
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10270
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3285
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro371Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-28365603-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28365603
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28365603
    reference: chr 3
allele count: 1
allele frequency: 8.262414277451872e-6
allele num: 121030
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*4483A>C
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163512
  ensembl transcript: ENST00000295748
  gene symbol: AZI2
  hgvsc: ENST00000295748.3:n.1368T>G
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000419371
  ensembl transcript: ENST00000479665
  gene symbol: AZI2
  hgvsc: ENST00000479665.1:c.1109T>G
  hgvsp: ENSP00000419371.1:p.Leu370Trp
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.158+2720T>G
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4695
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7268
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10271
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu370Trp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

3-28365603-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28365603
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28365603
    reference: chr 3
allele count: 1
allele frequency: 8.262414277451872e-6
allele num: 121030
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000419371
  ensembl transcript: ENST00000479665
  gene symbol: AZI2
  hgvsc: ENST00000479665.1:c.1109T>C
  hgvsp: ENSP00000419371.1:p.Leu370Ser
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163512
  ensembl transcript: ENST00000295748
  gene symbol: AZI2
  hgvsc: ENST00000295748.3:n.1368T>C
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*4483A>G
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.158+2720T>C
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15753
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27950
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3285
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7268
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu370Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

3-28365605-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28365605
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28365605
    reference: chr 3
allele count: 1
allele frequency: 8.263643275047103e-6
allele num: 121012
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*4485A>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.158+2718T>A
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163512
  ensembl transcript: ENST00000295748
  gene symbol: AZI2
  hgvsc: ENST00000295748.3:n.1366T>A
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000419371
  ensembl transcript: ENST00000479665
  gene symbol: AZI2
  hgvsc: ENST00000479665.1:c.1107T>A
  hgvsp: ENST00000479665.1:c.1107T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27901
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3390
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10263
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7266
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr369Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

3-28365619-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28365619
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28365619
    reference: chr 3
allele count: 8
allele frequency: 6.608730132505039e-5
allele num: 121052
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000419371
  ensembl transcript: ENST00000479665
  gene symbol: AZI2
  hgvsc: ENST00000479665.1:c.1093A>T
  hgvsp: ENSP00000419371.1:p.Thr365Ser
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.158+2704A>T
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163512
  ensembl transcript: ENST00000295748
  gene symbol: AZI2
  hgvsc: ENST00000295748.3:n.1352A>T
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*4499T>A
  variant of: http://identifiers.org/hgnc/28783
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7269
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27957
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3284
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10255
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr365Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-28365623-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28365623
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28365623
    reference: chr 3
allele count: 1
allele frequency: 8.260776182530111e-6
allele num: 121054
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000187118
  ensembl protein: ENSP00000418348
  ensembl transcript: ENST00000466830
  gene symbol: CMC1
  hgvsc: ENST00000466830.1:c.*4503C>T
  variant of: http://identifiers.org/hgnc/28783
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000419371
  ensembl transcript: ENST00000479665
  gene symbol: AZI2
  hgvsc: ENST00000479665.1:c.1089G>A
  hgvsp: ENST00000479665.1:c.1089G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163512
  ensembl transcript: ENST00000295748
  gene symbol: AZI2
  hgvsc: ENST00000295748.3:n.1348G>A
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.158+2700G>A
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4694
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3391
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27974
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3282
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly363Gly
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

3-28365633-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28365633
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 28365633
    reference: chr 3
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000403133
  ensembl transcript: ENST00000429369
  gene symbol: AZI2
  hgvsc: ENST00000429369.1:c.158+2690C>T
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163512
  ensembl protein: ENSP00000419371
  ensembl transcript: ENST00000479665
  gene symbol: AZI2
  hgvsc: ENST00000479665.1:c.1079C>T
  hgvsp: ENSP00000419371.1:p.Thr360Ile
  variant of: http://identifiers.org/hgnc/24002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163512
  ensembl transcript: ENST00000295748
  gene symbol: AZI2
  hgvsc: ENST00000295748.3:n.1338C>T
  variant of: http://identifiers.org/hgnc/24002
canonical: true
consequence: missense
filter: PASS
hgvs: p.Thr360Ile
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2449
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22759
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 584
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1526
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.218278615794144e-4
allele num: 4508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.609e0

VQSLOD
type: SiteQuality
SIO_000300: -1.394e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

QD
type: SiteQuality
SIO_000300: 1.357e1

DP
type: SiteQuality
SIO_000300: 2.93842e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.98e-2

FS
type: SiteQuality
SIO_000300: 4.635e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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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: 6.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.145002145002145e-4
allele num: 4662
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

VQSLOD
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DP
type: SiteQuality
SIO_000300: 3.11552e5

MQ
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SIO_000300: 4.334e1

BaseQRankSum
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SIO_000300: 1.47e0

ReadPosRankSum
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SIO_000300: -4.12e-1

MQRankSum
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SIO_000300: -1.709e0

FS
type: SiteQuality
SIO_000300: 2.796e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.169999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.149e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7658
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4716
num of homozygotes: 0

African
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: 1600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.160000000000001e-2

DP
type: SiteQuality
SIO_000300: 3.17797e5

QD
type: SiteQuality
SIO_000300: 1.296e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e0

VQSLOD
type: SiteQuality
SIO_000300: -2.967e0

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 956
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 6.127450980392157e-4
allele num: 1632
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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

DP
type: SiteQuality
SIO_000300: 3.92461e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.131e0

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.639e1

VQSLOD
type: SiteQuality
SIO_000300: -2.571e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.859999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1710
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.41e1

VQSLOD
type: SiteQuality
SIO_000300: 3.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.64e-2

DP
type: SiteQuality
SIO_000300: 4.4536e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.413e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1134
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 1.258494840171155e-4
allele num: 7946
num of homozygotes: 0

Other
type: Population
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allele num: 218
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.37e-2

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 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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Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.391594767603674e-4
allele num: 7186
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

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

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

East Asian
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South Asian
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allele count: 0
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Latino
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allele frequency: 0.0e0
allele num: 680
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European (Finnish)
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Other
type: Population
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num of homozygotes: 0

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

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

FS
type: SiteQuality
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QD
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DP
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2352
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9167
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.058103975535168e-5
allele num: 65400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.84e-1

QD
type: SiteQuality
SIO_000300: 1.365e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.74e-1

FS
type: SiteQuality
SIO_000300: 8.984e0

VQSLOD
type: SiteQuality
SIO_000300: 8.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.531e0

DP
type: SiteQuality
SIO_000300: 2.356759e6

GenotypeQuality
all individuals: 1121
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4095
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 4.25e1
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GenotypeQuality
all individuals: 1506
bin: 2.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 9450
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4512
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23430
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528164063693878e-5
allele num: 65438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15668
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.647e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

DP
type: SiteQuality
SIO_000300: 2.358095e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.566e0

QD
type: SiteQuality
SIO_000300: 1.676e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23430
bin: 9.75e1
variant carriers: 1

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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4520
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variant carriers: 0

GenotypeQuality
all individuals: 1003
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65458
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.015228426395939e-4
allele num: 9850
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.704e1

VQSLOD
type: SiteQuality
SIO_000300: -8.749e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

QD
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SIO_000300: 5.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.205e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

DP
type: SiteQuality
SIO_000300: 2.360672e6

GenotypeDepth
all individuals: 1387
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8510
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4173
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4726
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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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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 216
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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
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2176
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23431
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3760
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518233990222573e-5
allele num: 65866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9960
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11332
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.949e1

VQSLOD
type: SiteQuality
SIO_000300: -5.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

FS
type: SiteQuality
SIO_000300: 1.482e0

QD
type: SiteQuality
SIO_000300: 1.972e1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.05e-1

DP
type: SiteQuality
SIO_000300: 2.399679e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.026e0

GenotypeQuality
all individuals: 23431
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 928
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variant carriers: 0

GenotypeQuality
all individuals: 199
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variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 14082
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variant carriers: 0

GenotypeQuality
all individuals: 143
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variant carriers: 0

GenotypeQuality
all individuals: 2374
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variant carriers: 0

GenotypeQuality
all individuals: 3761
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 99
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GenotypeQuality
all individuals: 4743
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variant carriers: 0

GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 4180
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variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 4112
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
all individuals: 2177
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.823010411152286e-5
allele num: 11334
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16226
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9984
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65924
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.06e-1

FS
type: SiteQuality
SIO_000300: 6.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

QD
type: SiteQuality
SIO_000300: 1.164e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.401759e6

MQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

GenotypeQuality
all individuals: 75
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23433
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variant carriers: 1

GenotypeQuality
all individuals: 16
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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: 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
all individuals: 23
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2381
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513134003147319e-5
allele num: 66088
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

QD
type: SiteQuality
SIO_000300: 1.152e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.401e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.02e-1

FS
type: SiteQuality
SIO_000300: 4.937e0

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-1

MQ
type: SiteQuality
SIO_000300: 5.871e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 2.408724e6

GenotypeQuality
all individuals: 674
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
all individuals: 4175
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 4801
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2380
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23432
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10086
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512218727316719e-5
allele num: 66128
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.149e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

DP
type: SiteQuality
SIO_000300: 2.410666e6

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

MQRankSum
type: SiteQuality
SIO_000300: 9.99e-1

FS
type: SiteQuality
SIO_000300: 2.429e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.206e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-2

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
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bin: 7.5e0
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 23432
bin: 9.75e1
variant carriers: 1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512081531436175e-5
allele num: 66134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.318e0

DP
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ReadPosRankSum
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SIO_000300: 4.14e-1

InbreedingCoeff
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SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.985e1

ClippingRankSum
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SIO_000300: -9.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.93e-1

FS
type: SiteQuality
SIO_000300: 2.252e0

QD
type: SiteQuality
SIO_000300: 1.203e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.512081531436175e-5
allele num: 66134
num of homozygotes: 0

QD
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -4.46e-1

ClippingRankSum
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SIO_000300: -3.188e0

FS
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SIO_000300: 0.0e0

DP
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SIO_000300: 2.410637e6

MQRankSum
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SIO_000300: 1.29e0

MQ
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SIO_000300: 5.966e1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511761504505049e-5
allele num: 66148
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10104
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Latino
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: -1.948e0

ReadPosRankSum
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MQRankSum
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FS
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SIO_000300: 1.371e1

InbreedingCoeff
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SIO_000300: -4.0e-4

DP
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SIO_000300: 2.411063e6

VQSLOD
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SIO_000300: -1.114e0

BaseQRankSum
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SIO_000300: 1.46e0

QD
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SIO_000300: 1.016e1

MQ
type: SiteQuality
SIO_000300: 6.082e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 11

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

East Asian
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allele count: 5
allele frequency: 5.801810164771409e-4
allele num: 8618
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.023157385573493e-5
allele num: 66156
num of homozygotes: 0

South Asian
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allele count: 4
allele frequency: 2.43605359317905e-4
allele num: 16420
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10130
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.38e-1

VQSLOD
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QD
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SIO_000300: 1.108e1

MQRankSum
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MQ
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SIO_000300: 5.978e1

FS
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SIO_000300: 1.75e0

BaseQRankSum
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SIO_000300: -2.093e0

InbreedingCoeff
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SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

DP
type: SiteQuality
SIO_000300: 2.412071e6

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

South Asian
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allele count: 25
allele frequency: 1.523275651961979e-3
allele num: 16412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6596
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66162
num of homozygotes: 0

East Asian
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QD
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ClippingRankSum
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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DP
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MQ
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SIO_000300: 5.959e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 1.764602082230457e-4
allele num: 11334
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66188
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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FS
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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DP
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MQ
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66178
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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allele num: 11332
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Other
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South Asian
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MQ
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ClippingRankSum
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FS
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VQSLOD
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InbreedingCoeff
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DP
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ReadPosRankSum
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QD
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66180
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
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Latino
type: Population
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East Asian
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allele frequency: 1.160092807424594e-4
allele num: 8620
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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QD
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DP
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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European (Non-Finnish)
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Other
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South Asian
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European (Finnish)
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East Asian
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FS
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ClippingRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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DP
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QD
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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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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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Latino
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European (Non-Finnish)
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Other
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East Asian
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European (Finnish)
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South Asian
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FS
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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DP
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MQRankSum
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QD
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BaseQRankSum
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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East Asian
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Latino
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European (Non-Finnish)
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African
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Other
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BaseQRankSum
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MQ
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DP
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ClippingRankSum
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QD
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FS
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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African
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East Asian
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European (Finnish)
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South Asian
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MQRankSum
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DP
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ClippingRankSum
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FS
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BaseQRankSum
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QD
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MQ
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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Latino
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South Asian
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European (Non-Finnish)
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East Asian
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Other
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FS
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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QD
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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European (Finnish)
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Other
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European (Non-Finnish)
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South Asian
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BaseQRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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MQ
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FS
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ReadPosRankSum
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MQRankSum
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Non-Finnish)
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allele num: 66104
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16286
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

VQSLOD
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SIO_000300: 3.08e0

DP
type: SiteQuality
SIO_000300: 2.408568e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e-1

QD
type: SiteQuality
SIO_000300: 1.331e1

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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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
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.513683700653911e-5
allele num: 66064
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16232
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.379999999999999e-1

ClippingRankSum
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ReadPosRankSum
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MQRankSum
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QD
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VQSLOD
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BaseQRankSum
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SIO_000300: -5.327e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.407032e6

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16136
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66034
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.404198e6

VQSLOD
type: SiteQuality
SIO_000300: 3.91e-1

FS
type: SiteQuality
SIO_000300: 6.895e0

BaseQRankSum
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SIO_000300: 2.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.83e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65956
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15956
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.800078400627205e-5
allele num: 10204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 2.399189e6

QD
type: SiteQuality
SIO_000300: 1.173e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.15e0

VQSLOD
type: SiteQuality
SIO_000300: 4.16e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.843296781039972e-5
allele num: 11308
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65782
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15676
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.387181e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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SIO_000300: -1.065e0

BaseQRankSum
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SIO_000300: -2.164e0

VQSLOD
type: SiteQuality
SIO_000300: 2.33e-1

MQ
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SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: -3.58e-1

InbreedingCoeff
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SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.298e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.859988168014199e-5
allele num: 10142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65568
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.86e0

DP
type: SiteQuality
SIO_000300: 2.362917e6

QD
type: SiteQuality
SIO_000300: 1.57e1

ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.457e0

BaseQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: -1.113e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

MQ
type: SiteQuality
SIO_000300: 5.839e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8578
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
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num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
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African
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allele count: 2
allele frequency: 1.973554371422933e-4
allele num: 10134
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.358589e6

FS
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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QD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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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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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
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527277170260859e-5
allele num: 65476
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15174
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MQRankSum
type: SiteQuality
SIO_000300: -1.021e0

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
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DP
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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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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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14998
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529660109523664e-5
allele num: 65374
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.932e1

InbreedingCoeff
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SIO_000300: 8.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.16e-1

ReadPosRankSum
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SIO_000300: 3.79e-1

VQSLOD
type: SiteQuality
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DP
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FS
type: SiteQuality
SIO_000300: 6.441e0

QD
type: SiteQuality
SIO_000300: 1.634e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

GenotypeQuality
all individuals: 277
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.530409231428484e-5
allele num: 65342
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6576
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
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allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.735e1

BaseQRankSum
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SIO_000300: -3.5e-2

ClippingRankSum
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QD
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InbreedingCoeff
type: SiteQuality
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DP
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VQSLOD
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MQRankSum
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FS
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -1.473e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 14540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10054
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11264
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.534730961662421e-5
allele num: 65158
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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MQ
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BaseQRankSum
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QD
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

MQRankSum
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DP
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SIO_000300: 2.326658e6

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.988120195667365e-5
allele num: 14310
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10042
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6576
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65050
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.567e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.09e0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64914
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.997602876548142e-4
allele num: 10012
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14120
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 64266
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African
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East Asian
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Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
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allele num: 64258
num of homozygotes: 0

East Asian
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allele num: 8518
num of homozygotes: 0

Latino
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African
type: Population
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

VQSLOD
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FS
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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MQ
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SIO_000300: 6.016e1

InbreedingCoeff
type: SiteQuality
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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allele count: 3
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allele num: 64292
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Other
type: Population
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Latino
type: Population
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allele frequency: 8.885729518393461e-5
allele num: 11254
num of homozygotes: 0

South Asian
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allele num: 11114
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ReadPosRankSum
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BaseQRankSum
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MQ
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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QD
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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allele num: 6564
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Latino
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African
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European (Non-Finnish)
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South Asian
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Other
type: Population
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MQ
type: SiteQuality
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FS
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MQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.555258328408349e-5
allele num: 64298
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.945598e6

MQRankSum
type: SiteQuality
SIO_000300: -1.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.064e1

QD
type: SiteQuality
SIO_000300: 1.878e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.94e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11278
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.792401096748923e-5
allele num: 10212
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64484
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.954797e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.913e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.13e-1

FS
type: SiteQuality
SIO_000300: 4.182e0

QD
type: SiteQuality
SIO_000300: 1.568e1

MQRankSum
type: SiteQuality
SIO_000300: -7.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.608e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.386e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9904
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.788566953797964e-5
allele num: 10216
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.550964700043427e-5
allele num: 64476
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.337e1

VQSLOD
type: SiteQuality
SIO_000300: -4.11e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.504e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.92e-1

FS
type: SiteQuality
SIO_000300: 8.167999999999999e0

DP
type: SiteQuality
SIO_000300: 1.955824e6

MQRankSum
type: SiteQuality
SIO_000300: 1.93e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548610896026264e-5
allele num: 64574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.959907e6

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 9.84e-1

QD
type: SiteQuality
SIO_000300: 1.363e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.095496053242532e-5
allele num: 64610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11842
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.963626e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.175999999999999e-1

FS
type: SiteQuality
SIO_000300: 9.342000000000001e0

QD
type: SiteQuality
SIO_000300: 1.061e1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543686322939179e-5
allele num: 64780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12246
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.334e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-2

FS
type: SiteQuality
SIO_000300: 6.865e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.454e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.405e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

DP
type: SiteQuality
SIO_000300: 1.969934e6

QD
type: SiteQuality
SIO_000300: 1.356e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528350909368791e-5
allele num: 65430
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.996689e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

FS
type: SiteQuality
SIO_000300: 3.698e0

VQSLOD
type: SiteQuality
SIO_000300: 6.820000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-1

QD
type: SiteQuality
SIO_000300: 1.359e1

GenotypeQuality
all individuals: 10080
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.566349051721514e-5
allele num: 65698
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14894
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.947e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-1

DP
type: SiteQuality
SIO_000300: 2.007132e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e0

QD
type: SiteQuality
SIO_000300: 1.548e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16106
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.510528382828313e-5
allele num: 66202
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.029e0

FS
type: SiteQuality
SIO_000300: 9.4e0

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.026937e6

QD
type: SiteQuality
SIO_000300: 1.512e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e-1

MQ
type: SiteQuality
SIO_000300: 6.018e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.658103148541626e-5
allele num: 10354
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66238
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: 8624
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Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.09e-1

DP
type: SiteQuality
SIO_000300: 2.028069e6

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.684e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

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

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

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

African
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allele count: 3
allele frequency: 2.891844997108155e-4
allele num: 10374
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.02e-2

MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.032886e6

BaseQRankSum
type: SiteQuality
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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

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

South Asian
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allele frequency: 6.072382803011902e-5
allele num: 16468
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66474
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

Other
type: Population
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allele num: 906
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.951e1

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

Latino
type: Population
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allele frequency: 8.744316194473592e-5
allele num: 11436
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10382
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16476
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66496
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.09e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.937e1

DP
type: SiteQuality
SIO_000300: 2.035235e6

GenotypeQuality
all individuals: 2124
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 2.25e1
variant carriers: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.947660954145438e-4
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66520
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

QD
type: SiteQuality
SIO_000300: 1.305e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 2.036271e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.912e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.501e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
all individuals: 1370
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502990951994469e-5
allele num: 66534
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

VQSLOD
type: SiteQuality
SIO_000300: 5.669999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

QD
type: SiteQuality
SIO_000300: 1.207e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.72e0

FS
type: SiteQuality
SIO_000300: 1.107e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.035851e6

MQ
type: SiteQuality
SIO_000300: 5.901e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10257
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502810255177181e-5
allele num: 66542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.359e1

DP
type: SiteQuality
SIO_000300: 2.035863e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.31e0

FS
type: SiteQuality
SIO_000300: 6.669e0

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

MQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

MQ
type: SiteQuality
SIO_000300: 6.01e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.648e0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4693
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

FS
type: SiteQuality
SIO_000300: 2.096e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.004e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.036333e6

QD
type: SiteQuality
SIO_000300: 1.372e1

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7269
bin: 9.75e1
variant carriers: 2

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004536850644473e-5
allele num: 66566
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 2.036618e6

QD
type: SiteQuality
SIO_000300: 1.211e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

VQSLOD
type: SiteQuality
SIO_000300: 7.35e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.853e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.86e-1

GenotypeQuality
all individuals: 3285
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1370
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27950
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.99e-1

DP
type: SiteQuality
SIO_000300: 2.036616e6

QD
type: SiteQuality
SIO_000300: 1.403e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.945e1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4695
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10271
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.748906386701662e-5
allele num: 11430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

FS
type: SiteQuality
SIO_000300: 7.61e-1

QD
type: SiteQuality
SIO_000300: 1.403e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 2.036616e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.99e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.84e-1

GenotypeQuality
all individuals: 3284
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2124
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4695
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502223290469895e-5
allele num: 66568
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.48e-1

QD
type: SiteQuality
SIO_000300: 1.29e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.036491e6

MQ
type: SiteQuality
SIO_000300: 5.989e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.95e-1

GenotypeQuality
all individuals: 4693
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1370
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3392
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514233797698365e-4
allele num: 6604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.006366748753679e-5
allele num: 66596
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.818622696411251e-4
allele num: 16496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

FS
type: SiteQuality
SIO_000300: 3.223e0

DP
type: SiteQuality
SIO_000300: 2.037266e6

QD
type: SiteQuality
SIO_000300: 1.207e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.73e-1

GenotypeQuality
all individuals: 1370
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7261
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.376e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: -1.031e0

QD
type: SiteQuality
SIO_000300: 1.187e1

VQSLOD
type: SiteQuality
SIO_000300: 4.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.262e0

DP
type: SiteQuality
SIO_000300: 2.036649e6