1-39799757-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799757
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799757
    reference: chr 1
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7608T>A
  hgvsp: ENST00000567887.1:c.7608T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6732T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6732T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6732T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7512T>A
  hgvsp: ENST00000372915.3:c.7512T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2817T>A
  hgvsp: ENST00000289893.4:c.2817T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6732T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6732T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6732T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7497T>A
  hgvsp: ENST00000564288.1:c.7497T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6732T>A
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr2504Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

1-39799771-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799771
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799771
    reference: chr 1
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6746A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6746A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6746A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6746A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7622A>G
  hgvsp: ENSP00000455823.1:p.Asp2541Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7511A>G
  hgvsp: ENSP00000455274.1:p.Asp2504Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6746A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7526A>G
  hgvsp: ENSP00000362006.3:p.Asp2509Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2831A>G
  hgvsp: ENSP00000289893.4:p.Asp944Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6746A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6746A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp2509Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

1-39799783-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799783
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799783
    reference: chr 1
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2843T>C
  hgvsp: ENSP00000289893.4:p.Ile948Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6758T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7523T>C
  hgvsp: ENSP00000455274.1:p.Ile2508Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7634T>C
  hgvsp: ENSP00000455823.1:p.Ile2545Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7538T>C
  hgvsp: ENSP00000362006.3:p.Ile2513Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6758T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6758T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6758T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6758T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6758T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6758T>C
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile2513Thr
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

1-39799789-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799789
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799789
    reference: chr 1
allele count: 2
allele frequency: 1.648342591524222e-5
allele num: 121334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7529A>G
  hgvsp: ENSP00000455274.1:p.His2510Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6764A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2849A>G
  hgvsp: ENSP00000289893.4:p.His950Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6764A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6764A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7640A>G
  hgvsp: ENSP00000455823.1:p.His2547Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6764A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6764A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6764A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7544A>G
  hgvsp: ENSP00000362006.3:p.His2515Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6764A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.His2515Arg
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

1-39799789-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799789
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799789
    reference: chr 1
allele count: 2
allele frequency: 1.648342591524222e-5
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7544A>T
  hgvsp: ENSP00000362006.3:p.His2515Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2849A>T
  hgvsp: ENSP00000289893.4:p.His950Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6764A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7640A>T
  hgvsp: ENSP00000455823.1:p.His2547Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6764A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6764A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6764A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7529A>T
  hgvsp: ENSP00000455274.1:p.His2510Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6764A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6764A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6764A>T
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His2515Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

1-39799805-ACTTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799805
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799801
    reference: chr 1
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7563_7566delTTCT
  hgvsp: ENSP00000362006.3:p.Ser2522LeufsTer9
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6783_2029+6786delTTCT
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6783_4629+6786delTTCT
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6783_2029+6786delTTCT
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6783_4629+6786delTTCT
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6783_4629+6786delTTCT
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6783_4629+6786delTTCT
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7548_7551delTTCT
  hgvsp: ENSP00000455274.1:p.Ser2517LeufsTer9
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2868_2871delTTCT
  hgvsp: ENSP00000289893.4:p.Ser957LeufsTer9
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7659_7662delTTCT
  hgvsp: ENSP00000455823.1:p.Ser2554LeufsTer9
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6783_5076+6786delTTCT
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser2522LeufsTer9
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: ACTTT
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

1-39799819-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799819
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799819
    reference: chr 1
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6794A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2879A>G
  hgvsp: ENSP00000289893.4:p.Asn960Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7559A>G
  hgvsp: ENSP00000455274.1:p.Asn2520Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6794A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6794A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6794A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7574A>G
  hgvsp: ENSP00000362006.3:p.Asn2525Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7670A>G
  hgvsp: ENSP00000455823.1:p.Asn2557Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6794A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6794A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6794A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11073
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn2525Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

1-39799826-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799826
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799826
    reference: chr 1
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6801C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6801C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7677C>T
  hgvsp: ENST00000567887.1:c.7677C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2886C>T
  hgvsp: ENST00000289893.4:c.2886C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6801C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6801C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6801C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7566C>T
  hgvsp: ENST00000564288.1:c.7566C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6801C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7581C>T
  hgvsp: ENST00000372915.3:c.7581C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6801C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11062
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe2527Phe
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

1-39799828-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799828
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799828
    reference: chr 1
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2888G>T
  hgvsp: ENSP00000289893.4:p.Arg963Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7583G>T
  hgvsp: ENSP00000362006.3:p.Arg2528Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6803G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6803G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6803G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7679G>T
  hgvsp: ENSP00000455823.1:p.Arg2560Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6803G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6803G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6803G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7568G>T
  hgvsp: ENSP00000455274.1:p.Arg2523Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6803G>T
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg2528Ile
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

1-39799831-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799831
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799831
    reference: chr 1
allele count: 2
allele frequency: 1.648559982854976e-5
allele num: 121318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7586A>G
  hgvsp: ENSP00000362006.3:p.His2529Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6806A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7682A>G
  hgvsp: ENSP00000455823.1:p.His2561Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6806A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2891A>G
  hgvsp: ENSP00000289893.4:p.His964Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6806A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6806A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7571A>G
  hgvsp: ENSP00000455274.1:p.His2524Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6806A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6806A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6806A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His2529Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

1-39799839-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799839
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799839
    reference: chr 1
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6814A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7579A>G
  hgvsp: ENSP00000455274.1:p.Ile2527Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7594A>G
  hgvsp: ENSP00000362006.3:p.Ile2532Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7690A>G
  hgvsp: ENSP00000455823.1:p.Ile2564Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6814A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6814A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2899A>G
  hgvsp: ENSP00000289893.4:p.Ile967Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6814A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6814A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6814A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6814A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile2532Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

1-39799842-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799842
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799842
    reference: chr 1
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7597G>C
  hgvsp: ENSP00000362006.3:p.Gly2533Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2902G>C
  hgvsp: ENSP00000289893.4:p.Gly968Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7582G>C
  hgvsp: ENSP00000455274.1:p.Gly2528Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6817G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6817G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6817G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7693G>C
  hgvsp: ENSP00000455823.1:p.Gly2565Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6817G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6817G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6817G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6817G>C
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly2533Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

1-39799843-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799843
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799843
    reference: chr 1
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2903G>A
  hgvsp: ENSP00000289893.4:p.Gly968Asp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6818G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6818G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7694G>A
  hgvsp: ENSP00000455823.1:p.Gly2565Asp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6818G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6818G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7598G>A
  hgvsp: ENSP00000362006.3:p.Gly2533Asp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6818G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7583G>A
  hgvsp: ENSP00000455274.1:p.Gly2528Asp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6818G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6818G>A
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly2533Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-39799845-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799845
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799845
    reference: chr 1
allele count: 2
allele frequency: 1.649266900862567e-5
allele num: 121266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7696G>A
  hgvsp: ENSP00000455823.1:p.Glu2566Lys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7600G>A
  hgvsp: ENSP00000362006.3:p.Glu2534Lys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2905G>A
  hgvsp: ENSP00000289893.4:p.Glu969Lys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6820G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7585G>A
  hgvsp: ENSP00000455274.1:p.Glu2529Lys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6820G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6820G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6820G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6820G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6820G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6820G>A
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Glu2534Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

1-39799850-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799850
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799850
    reference: chr 1
allele count: 3
allele frequency: 2.474553343121567e-5
allele num: 121234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6825T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6825T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6825T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2910T>C
  hgvsp: ENST00000289893.4:c.2910T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7605T>C
  hgvsp: ENST00000372915.3:c.7605T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6825T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6825T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7701T>C
  hgvsp: ENST00000567887.1:c.7701T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6825T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7590T>C
  hgvsp: ENST00000564288.1:c.7590T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6825T>C
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp2535Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

1-39799856-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799856
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799856
    reference: chr 1
allele count: 2
allele frequency: 1.65016501650165e-5
allele num: 121200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6831C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7611C>T
  hgvsp: ENST00000372915.3:c.7611C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7707C>T
  hgvsp: ENST00000567887.1:c.7707C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6831C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6831C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6831C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6831C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7596C>T
  hgvsp: ENST00000564288.1:c.7596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6831C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2916C>T
  hgvsp: ENST00000289893.4:c.2916C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6831C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala2537Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

1-39799857-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799857
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799857
    reference: chr 1
allele count: 3
allele frequency: 2.475737769855417e-5
allele num: 121176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6832G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6832G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7708G>A
  hgvsp: ENSP00000455823.1:p.Glu2570Lys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6832G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6832G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6832G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6832G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7597G>A
  hgvsp: ENSP00000455274.1:p.Glu2533Lys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2917G>A
  hgvsp: ENSP00000289893.4:p.Glu973Lys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6832G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7612G>A
  hgvsp: ENSP00000362006.3:p.Glu2538Lys
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Glu2538Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-39799860-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799860
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799860
    reference: chr 1
allele count: 3
allele frequency: 2.475574333245313e-5
allele num: 121184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2920A>G
  hgvsp: ENSP00000289893.4:p.Lys974Glu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6835A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7615A>G
  hgvsp: ENSP00000362006.3:p.Lys2539Glu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6835A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7600A>G
  hgvsp: ENSP00000455274.1:p.Lys2534Glu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7711A>G
  hgvsp: ENSP00000455823.1:p.Lys2571Glu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6835A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6835A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6835A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6835A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6835A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys2539Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-39799862-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799862
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799862
    reference: chr 1
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2922A>G
  hgvsp: ENST00000289893.4:c.2922A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6837A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7713A>G
  hgvsp: ENST00000567887.1:c.7713A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6837A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6837A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6837A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6837A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7602A>G
  hgvsp: ENST00000564288.1:c.7602A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6837A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6837A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7617A>G
  hgvsp: ENST00000372915.3:c.7617A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Lys2539Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

1-39799871-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799871
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799871
    reference: chr 1
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6846A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6846A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6846A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7722A>G
  hgvsp: ENST00000567887.1:c.7722A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6846A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7611A>G
  hgvsp: ENST00000564288.1:c.7611A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6846A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6846A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2931A>G
  hgvsp: ENST00000289893.4:c.2931A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7626A>G
  hgvsp: ENST00000372915.3:c.7626A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6846A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg2542Arg
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

1-39799872-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799872
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799872
    reference: chr 1
allele count: 2
allele frequency: 1.65144584083365e-5
allele num: 121106
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2932G>C
  hgvsp: ENSP00000289893.4:p.Val978Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6847G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6847G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7627G>C
  hgvsp: ENSP00000362006.3:p.Val2543Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7723G>C
  hgvsp: ENSP00000455823.1:p.Val2575Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7612G>C
  hgvsp: ENSP00000455274.1:p.Val2538Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6847G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6847G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6847G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6847G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6847G>C
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val2543Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum

1-39799874-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799874
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799874
    reference: chr 1
allele count: 2
allele frequency: 1.651500388102591e-5
allele num: 121102
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7725T>C
  hgvsp: ENST00000567887.1:c.7725T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2934T>C
  hgvsp: ENST00000289893.4:c.2934T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6849T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7629T>C
  hgvsp: ENST00000372915.3:c.7629T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6849T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6849T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6849T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7614T>C
  hgvsp: ENST00000564288.1:c.7614T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6849T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6849T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6849T>C
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val2543Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-39799877-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799877
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799877
    reference: chr 1
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6852G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2937G>A
  hgvsp: ENST00000289893.4:c.2937G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7728G>A
  hgvsp: ENST00000567887.1:c.7728G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7632G>A
  hgvsp: ENST00000372915.3:c.7632G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6852G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6852G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6852G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6852G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6852G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7617G>A
  hgvsp: ENST00000564288.1:c.7617G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6852G>A
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10960
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu2544Glu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

1-39799890-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799890
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799890
    reference: chr 1
allele count: 1
allele frequency: 8.265282507356101e-6
allele num: 120988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2950C>T
  hgvsp: ENSP00000289893.4:p.His984Tyr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6865C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6865C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6865C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6865C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7645C>T
  hgvsp: ENSP00000362006.3:p.His2549Tyr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6865C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7741C>T
  hgvsp: ENSP00000455823.1:p.His2581Tyr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7630C>T
  hgvsp: ENSP00000455274.1:p.His2544Tyr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6865C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6865C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His2549Tyr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

1-39799891-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799891
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799891
    reference: chr 1
allele count: 125
allele frequency: 1.033040776185518e-3
allele num: 121002
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7646A>T
  hgvsp: ENSP00000362006.3:p.His2549Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6866A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7742A>T
  hgvsp: ENSP00000455823.1:p.His2581Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6866A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6866A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6866A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7631A>T
  hgvsp: ENSP00000455274.1:p.His2544Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2951A>T
  hgvsp: ENSP00000289893.4:p.His984Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6866A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6866A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6866A>T
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10935
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 16618
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 17619
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
hgvs: p.His2549Leu
num of homozygotes: 1
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/1-39799902-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799902
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799902
    reference: chr 1
allele count: 2
allele frequency: 1.65371258475277e-5
allele num: 120940
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6877A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7642A>C
  hgvsp: ENSP00000455274.1:p.Asn2548His
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6877A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6877A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7657A>C
  hgvsp: ENSP00000362006.3:p.Asn2553His
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2962A>C
  hgvsp: ENSP00000289893.4:p.Asn988His
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7753A>C
  hgvsp: ENSP00000455823.1:p.Asn2585His
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6877A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6877A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6877A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6877A>C
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17626
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn2553His
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

1-39799912-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799912
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799912
    reference: chr 1
allele count: 5070
allele frequency: 4.193340280879361e-2
allele num: 120906
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6887C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7667C>T
  hgvsp: ENSP00000362006.3:p.Thr2556Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6887C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7763C>T
  hgvsp: ENSP00000455823.1:p.Thr2588Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6887C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7652C>T
  hgvsp: ENSP00000455274.1:p.Thr2551Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2972C>T
  hgvsp: ENSP00000289893.4:p.Thr991Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6887C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6887C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6887C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6887C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 5.25e1
  variant carriers: 370
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.25e1
  variant carriers: 460
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.75e1
  variant carriers: 409
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 4.25e1
  variant carriers: 219
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 3.75e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 17023
  bin: 2.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.25e1
  variant carriers: 406
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 272
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.75e1
  variant carriers: 457
genotype depth: GenotypeDepth
  all individuals: 15384
  bin: 2.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 10481
  bin: 3.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 4.75e1
  variant carriers: 274
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.75e1
  variant carriers: 420
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 319
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 202
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 9.75e1
  variant carriers: 694
genotype quality: GenotypeQuality
hgvs: p.Thr2556Met
num of homozygotes: 140
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

1-39799913-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799913
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799913
    reference: chr 1
allele count: 8
allele frequency: 6.61791469507958e-5
allele num: 120884
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7668G>A
  hgvsp: ENST00000372915.3:c.7668G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6888G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7653G>A
  hgvsp: ENST00000564288.1:c.7653G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6888G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6888G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6888G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7764G>A
  hgvsp: ENST00000567887.1:c.7764G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2973G>A
  hgvsp: ENST00000289893.4:c.2973G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6888G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6888G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6888G>A
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr2556Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

1-39799917-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799917
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799917
    reference: chr 1
allele count: 1
allele frequency: 8.272803984182399e-6
allele num: 120878
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7657G>C
  hgvsp: ENSP00000455274.1:p.Glu2553Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6892G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6892G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7672G>C
  hgvsp: ENSP00000362006.3:p.Glu2558Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2977G>C
  hgvsp: ENSP00000289893.4:p.Glu993Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6892G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6892G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7768G>C
  hgvsp: ENSP00000455823.1:p.Glu2590Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6892G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6892G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6892G>C
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18661
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu2558Gln
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

1-39799928-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799928
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799928
    reference: chr 1
allele count: 2
allele frequency: 1.65508109897385e-5
allele num: 120840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6903C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6903C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7668C>T
  hgvsp: ENST00000564288.1:c.7668C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6903C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7683C>T
  hgvsp: ENST00000372915.3:c.7683C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6903C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6903C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7779C>T
  hgvsp: ENST00000567887.1:c.7779C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.2988C>T
  hgvsp: ENST00000289893.4:c.2988C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6903C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6903C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11711
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser2561Ser
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/1-39799949-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799949
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799949
    reference: chr 1
allele count: 1
allele frequency: 8.279927799029592e-6
allele num: 120774
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6924A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6924A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7689A>C
  hgvsp: ENSP00000455274.1:p.Leu2563Phe
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7800A>C
  hgvsp: ENSP00000455823.1:p.Leu2600Phe
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7704A>C
  hgvsp: ENSP00000362006.3:p.Leu2568Phe
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6924A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3009A>C
  hgvsp: ENSP00000289893.4:p.Leu1003Phe
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6924A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6924A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6924A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6924A>C
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu2568Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-39799957-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799957
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799957
    reference: chr 1
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6932T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6932T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6932T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6932T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3017T>G
  hgvsp: ENSP00000289893.4:p.Ile1006Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6932T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6932T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7712T>G
  hgvsp: ENSP00000362006.3:p.Ile2571Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7697T>G
  hgvsp: ENSP00000455274.1:p.Ile2566Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7808T>G
  hgvsp: ENSP00000455823.1:p.Ile2603Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6932T>G
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile2571Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

1-39799961-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799961
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799961
    reference: chr 1
allele count: 3
allele frequency: 2.484595507851322e-5
allele num: 120744
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7701C>G
  hgvsp: ENST00000564288.1:c.7701C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6936C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7812C>G
  hgvsp: ENST00000567887.1:c.7812C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7716C>G
  hgvsp: ENST00000372915.3:c.7716C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6936C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6936C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6936C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6936C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3021C>G
  hgvsp: ENST00000289893.4:c.3021C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6936C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6936C>G
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr2572Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

1-39799967-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799967
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799967
    reference: chr 1
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6942C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7707C>T
  hgvsp: ENST00000564288.1:c.7707C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6942C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7818C>T
  hgvsp: ENST00000567887.1:c.7818C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6942C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6942C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6942C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7722C>T
  hgvsp: ENST00000372915.3:c.7722C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6942C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3027C>T
  hgvsp: ENST00000289893.4:c.3027C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6942C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp2574Asp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

1-39799968-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799968
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799968
    reference: chr 1
allele count: 1
allele frequency: 8.282670995742708e-6
allele num: 120734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6943C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6943C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7819C>T
  hgvsp: ENST00000567887.1:c.7819C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6943C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7708C>T
  hgvsp: ENST00000564288.1:c.7708C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6943C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6943C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3028C>T
  hgvsp: ENST00000289893.4:c.3028C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7723C>T
  hgvsp: ENST00000372915.3:c.7723C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6943C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6943C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu2575Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

1-39799988-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799988
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799988
    reference: chr 1
allele count: 1
allele frequency: 8.286514526259965e-6
allele num: 120678
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6963G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6963G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7728G>C
  hgvsp: ENSP00000455274.1:p.Glu2576Asp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6963G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6963G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7839G>C
  hgvsp: ENSP00000455823.1:p.Glu2613Asp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7743G>C
  hgvsp: ENSP00000362006.3:p.Glu2581Asp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6963G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3048G>C
  hgvsp: ENSP00000289893.4:p.Glu1016Asp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6963G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6963G>C
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5998
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu2581Asp
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

1-39799990-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799990
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799990
    reference: chr 1
allele count: 3
allele frequency: 2.486119167978785e-5
allele num: 120670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6965T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6965T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6965T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7730T>A
  hgvsp: ENSP00000455274.1:p.Val2577Asp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6965T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7745T>A
  hgvsp: ENSP00000362006.3:p.Val2582Asp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7841T>A
  hgvsp: ENSP00000455823.1:p.Val2614Asp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6965T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3050T>A
  hgvsp: ENSP00000289893.4:p.Val1017Asp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6965T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6965T>A
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val2582Asp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

1-39799995-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799995
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799995
    reference: chr 1
allele count: 3
allele frequency: 2.486201581224206e-5
allele num: 120666
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6970G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7750G>A
  hgvsp: ENSP00000362006.3:p.Ala2584Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3055G>A
  hgvsp: ENSP00000289893.4:p.Ala1019Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6970G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6970G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7846G>A
  hgvsp: ENSP00000455823.1:p.Ala2616Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6970G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6970G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6970G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6970G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7735G>A
  hgvsp: ENSP00000455274.1:p.Ala2579Thr
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala2584Thr
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/1-39799997-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39799997
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39799997
    reference: chr 1
allele count: 1
allele frequency: 8.287888080359362e-6
allele num: 120658
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6972C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3057C>A
  hgvsp: ENST00000289893.4:c.3057C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6972C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6972C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7848C>A
  hgvsp: ENST00000567887.1:c.7848C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6972C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6972C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7752C>A
  hgvsp: ENST00000372915.3:c.7752C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6972C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7737C>A
  hgvsp: ENST00000564288.1:c.7737C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6972C>A
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala2584Ala
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/1-39800001-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800001
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800001
    reference: chr 1
allele count: 1
allele frequency: 8.287475966319697e-6
allele num: 120664
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+6976A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7756A>C
  hgvsp: ENSP00000362006.3:p.Thr2586Pro
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3061A>C
  hgvsp: ENSP00000289893.4:p.Thr1021Pro
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+6976A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+6976A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+6976A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7741A>C
  hgvsp: ENSP00000455274.1:p.Thr2581Pro
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7852A>C
  hgvsp: ENSP00000455823.1:p.Thr2618Pro
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+6976A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+6976A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+6976A>C
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15782
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr2586Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-39800040-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800040
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800040
    reference: chr 1
allele count: 1
allele frequency: 8.294074713025015e-6
allele num: 120568
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+7015A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3100A>G
  hgvsp: ENSP00000289893.4:p.Thr1034Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+7015A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7780A>G
  hgvsp: ENSP00000455274.1:p.Thr2594Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+7015A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7795A>G
  hgvsp: ENSP00000362006.3:p.Thr2599Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+7015A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+7015A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+7015A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7891A>G
  hgvsp: ENSP00000455823.1:p.Thr2631Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+7015A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr2599Ala
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: A
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-39800042-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800042
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800042
    reference: chr 1
allele count: 1
allele frequency: 8.294074713025015e-6
allele num: 120568
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+7017C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+7017C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+7017C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+7017C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7782C>G
  hgvsp: ENST00000564288.1:c.7782C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+7017C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+7017C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7893C>G
  hgvsp: ENST00000567887.1:c.7893C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7797C>G
  hgvsp: ENST00000372915.3:c.7797C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3102C>G
  hgvsp: ENST00000289893.4:c.3102C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+7017C>G
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr2599Thr
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

1-39800045-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800045
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800045
    reference: chr 1
allele count: 1
allele frequency: 8.294900295298451e-6
allele num: 120556
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3105G>A
  hgvsp: ENST00000289893.4:c.3105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7896G>A
  hgvsp: ENST00000567887.1:c.7896G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+7020G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+7020G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+7020G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+7020G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+7020G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+7020G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+7020G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7785G>A
  hgvsp: ENST00000564288.1:c.7785G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7800G>A
  hgvsp: ENST00000372915.3:c.7800G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu2600Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

1-39800048-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800048
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800048
    reference: chr 1
allele count: 1
allele frequency: 8.294487483618387e-6
allele num: 120562
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3108A>G
  hgvsp: ENST00000289893.4:c.3108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7788A>G
  hgvsp: ENST00000564288.1:c.7788A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7803A>G
  hgvsp: ENST00000372915.3:c.7803A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+7023A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+7023A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+7023A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7899A>G
  hgvsp: ENST00000567887.1:c.7899A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+7023A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+7023A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+7023A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+7023A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala2601Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

1-39800052-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800052
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800052
    reference: chr 1
allele count: 1
allele frequency: 8.294487483618387e-6
allele num: 120562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+7027G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+7027G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3112G>A
  hgvsp: ENSP00000289893.4:p.Ala1038Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+7027G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7903G>A
  hgvsp: ENSP00000455823.1:p.Ala2635Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+7027G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+7027G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7792G>A
  hgvsp: ENSP00000455274.1:p.Ala2598Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+7027G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7807G>A
  hgvsp: ENSP00000362006.3:p.Ala2603Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+7027G>A
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala2603Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-39800060-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800060
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800060
    reference: chr 1
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+7035A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+7035A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+7035A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7911A>G
  hgvsp: ENST00000567887.1:c.7911A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+7035A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+7035A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7800A>G
  hgvsp: ENST00000564288.1:c.7800A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3120A>G
  hgvsp: ENST00000289893.4:c.3120A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+7035A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7815A>G
  hgvsp: ENST00000372915.3:c.7815A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+7035A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys2605Lys
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-39800075-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800075
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800075
    reference: chr 1
allele count: 1
allele frequency: 8.295450774795103e-6
allele num: 120548
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7926T>C
  hgvsp: ENST00000567887.1:c.7926T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7830T>C
  hgvsp: ENST00000372915.3:c.7830T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+7050T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+7050T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+7050T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+7050T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+7050T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7815T>C
  hgvsp: ENST00000564288.1:c.7815T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3135T>C
  hgvsp: ENST00000289893.4:c.3135T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+7050T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+7050T>C
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr2610Thr
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-39800089-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800089
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800089
    reference: chr 1
allele count: 1
allele frequency: 8.292836647703714e-6
allele num: 120586
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+7064T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+7064T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+7064T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3149T>G
  hgvsp: ENSP00000289893.4:p.Leu1050Trp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+7064T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+7064T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7844T>G
  hgvsp: ENSP00000362006.3:p.Leu2615Trp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+7064T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7940T>G
  hgvsp: ENSP00000455823.1:p.Leu2647Trp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7829T>G
  hgvsp: ENSP00000455274.1:p.Leu2610Trp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+7064T>G
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu2615Trp
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

1-39800091-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800091
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800091
    reference: chr 1
allele count: 3
allele frequency: 2.487809732311673e-5
allele num: 120588
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+7066T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+7066T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7942T>C
  hgvsp: ENSP00000455823.1:p.Ser2648Pro
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+7066T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+7066T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+7066T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+7066T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7846T>C
  hgvsp: ENSP00000362006.3:p.Ser2616Pro
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3151T>C
  hgvsp: ENSP00000289893.4:p.Ser1051Pro
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7831T>C
  hgvsp: ENSP00000455274.1:p.Ser2611Pro
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+7066T>C
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser2616Pro
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

1-39800102-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800102
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800102
    reference: chr 1
allele count: 1
allele frequency: 8.290499088045101e-6
allele num: 120620
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+7077G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+7077G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+7077G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7857G>A
  hgvsp: ENSP00000362006.3:p.Met2619Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3162G>A
  hgvsp: ENSP00000289893.4:p.Met1054Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7953G>A
  hgvsp: ENSP00000455823.1:p.Met2651Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+7077G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+7077G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+7077G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7842G>A
  hgvsp: ENSP00000455274.1:p.Met2614Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+7077G>A
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met2619Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

1-39800105-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800105
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800105
    reference: chr 1
allele count: 2
allele frequency: 1.657769967839263e-5
allele num: 120644
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+7080G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+7080G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3165G>T
  hgvsp: ENSP00000289893.4:p.Met1055Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7956G>T
  hgvsp: ENSP00000455823.1:p.Met2652Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+7080G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7860G>T
  hgvsp: ENSP00000362006.3:p.Met2620Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+7080G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7845G>T
  hgvsp: ENSP00000455274.1:p.Met2615Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+7080G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+7080G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+7080G>T
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met2620Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

1-39800105-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800105
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800105
    reference: chr 1
allele count: 2
allele frequency: 1.657769967839263e-5
allele num: 120644
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+7080G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+7080G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7860G>A
  hgvsp: ENSP00000362006.3:p.Met2620Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+7080G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+7080G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+7080G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7845G>A
  hgvsp: ENSP00000455274.1:p.Met2615Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7956G>A
  hgvsp: ENSP00000455823.1:p.Met2652Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3165G>A
  hgvsp: ENSP00000289893.4:p.Met1055Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+7080G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+7080G>A
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met2620Ile
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

1-39800106-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800106
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800106
    reference: chr 1
allele count: 2
allele frequency: 1.657769967839263e-5
allele num: 120644
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+7081C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+7081C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7846C>G
  hgvsp: ENSP00000455274.1:p.His2616Asp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+7081C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7957C>G
  hgvsp: ENSP00000455823.1:p.His2653Asp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+7081C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+7081C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+7081C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3166C>G
  hgvsp: ENSP00000289893.4:p.His1056Asp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7861C>G
  hgvsp: ENSP00000362006.3:p.His2621Asp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+7081C>G
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.His2621Asp
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-39800112-A-ATTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800112
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800115
    reference: chr 1
allele count: 7
allele frequency: 5.799887316474995e-5
allele num: 120692
alternate allele: ATTG
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7869_7871dupTGT
  hgvsp: ENSP00000362006.3:p.Val2624dup
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7965_7967dupTGT
  hgvsp: ENSP00000455823.1:p.Val2656dup
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+7089_4629+7091dupTGT
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+7089_5076+7091dupTGT
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3174_3176dupTGT
  hgvsp: ENSP00000289893.4:p.Val1059dup
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+7089_4629+7091dupTGT
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+7089_4629+7091dupTGT
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+7089_2029+7091dupTGT
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+7089_4629+7091dupTGT
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+7089_2029+7091dupTGT
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7854_7856dupTGT
  hgvsp: ENSP00000455274.1:p.Val2619dup
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11646
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val2624dup
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

1-39800120-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800120
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800120
    reference: chr 1
allele count: 2
allele frequency: 1.657000828500414e-5
allele num: 120700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+7095T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7971T>A
  hgvsp: ENSP00000455823.1:p.Asp2657Glu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+7095T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7860T>A
  hgvsp: ENSP00000455274.1:p.Asp2620Glu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7875T>A
  hgvsp: ENSP00000362006.3:p.Asp2625Glu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+7095T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+7095T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3180T>A
  hgvsp: ENSP00000289893.4:p.Asp1060Glu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+7095T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+7095T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+7095T>A
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp2625Glu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

1-39800123-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800123
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800123
    reference: chr 1
allele count: 210
allele frequency: 1.739389722691581e-3
allele num: 120732
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3183C>T
  hgvsp: ENST00000289893.4:c.3183C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+7098C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+7098C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+7098C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+7098C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7974C>T
  hgvsp: ENST00000567887.1:c.7974C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+7098C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+7098C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7863C>T
  hgvsp: ENST00000564288.1:c.7863C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7878C>T
  hgvsp: ENST00000372915.3:c.7878C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+7098C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18832
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15896
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 11627
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
hgvs: p.Pro2626Pro
num of homozygotes: 2
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

1-39800124-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800124
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800124
    reference: chr 1
allele count: 3
allele frequency: 2.484595507851322e-5
allele num: 120744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+7099G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3184G>A
  hgvsp: ENSP00000289893.4:p.Glu1062Lys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+7099G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+7099G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7879G>A
  hgvsp: ENSP00000362006.3:p.Glu2627Lys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+7099G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+7099G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7975G>A
  hgvsp: ENSP00000455823.1:p.Glu2659Lys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+7099G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7864G>A
  hgvsp: ENSP00000455274.1:p.Glu2622Lys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+7099G>A
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu2627Lys
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

1-39800136-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800136
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800136
    reference: chr 1
allele count: 1
allele frequency: 8.278831029058698e-6
allele num: 120790
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+7111A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+7111A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7987A>G
  hgvsp: ENSP00000455823.1:p.Ile2663Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+7111A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+7111A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7891A>G
  hgvsp: ENSP00000362006.3:p.Ile2631Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+7111A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3196A>G
  hgvsp: ENSP00000289893.4:p.Ile1066Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+7111A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7876A>G
  hgvsp: ENSP00000455274.1:p.Ile2626Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+7111A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile2631Val
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

1-39800139-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800139
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800139
    reference: chr 1
allele count: 1
allele frequency: 8.27841981522567e-6
allele num: 120796
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+7114G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+7114G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+7114G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+7114G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7894G>A
  hgvsp: ENSP00000362006.3:p.Val2632Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+7114G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.7990G>A
  hgvsp: ENSP00000455823.1:p.Val2664Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3199G>A
  hgvsp: ENSP00000289893.4:p.Val1067Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+7114G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7879G>A
  hgvsp: ENSP00000455274.1:p.Val2627Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+7114G>A
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val2632Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

1-39800153-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800153
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800153
    reference: chr 1
allele count: 37
allele frequency: 3.062102754237288e-4
allele num: 120832
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7893A>G
  hgvsp: ENST00000564288.1:c.7893A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+7128A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+7128A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3213A>G
  hgvsp: ENST00000289893.4:c.3213A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+7128A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.8004A>G
  hgvsp: ENST00000567887.1:c.8004A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+7128A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7908A>G
  hgvsp: ENST00000372915.3:c.7908A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+7128A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+7128A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+7128A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11627
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Glu2636Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/1-39800159-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800159
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800159
    reference: chr 1
allele count: 1
allele frequency: 8.274720728175424e-6
allele num: 120850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+7134C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+7134C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3219C>A
  hgvsp: ENST00000289893.4:c.3219C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+7134C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7899C>A
  hgvsp: ENST00000564288.1:c.7899C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+7134C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7914C>A
  hgvsp: ENST00000372915.3:c.7914C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+7134C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.8010C>A
  hgvsp: ENST00000567887.1:c.8010C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+7134C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+7134C>A
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val2638Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-39800165-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800165
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800165
    reference: chr 1
allele count: 2
allele frequency: 1.654752449033625e-5
allele num: 120864
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3225A>G
  hgvsp: ENST00000289893.4:c.3225A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+7140A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+7140A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+7140A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7920A>G
  hgvsp: ENST00000372915.3:c.7920A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.8016A>G
  hgvsp: ENST00000567887.1:c.8016A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7905A>G
  hgvsp: ENST00000564288.1:c.7905A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+7140A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+7140A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+7140A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+7140A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys2640Lys
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

1-39800169-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800169
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800169
    reference: chr 1
allele count: 1
allele frequency: 8.273351534706709e-6
allele num: 120870
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+7144A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+7144A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+7144A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.8020A>G
  hgvsp: ENSP00000455823.1:p.Lys2674Glu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+7144A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7924A>G
  hgvsp: ENSP00000362006.3:p.Lys2642Glu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7909A>G
  hgvsp: ENSP00000455274.1:p.Lys2637Glu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+7144A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3229A>G
  hgvsp: ENSP00000289893.4:p.Lys1077Glu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+7144A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+7144A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11619
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys2642Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

1-39800171-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800171
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800171
    reference: chr 1
allele count: 13
allele frequency: 1.075678090919622e-4
allele num: 120854
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3231G>T
  hgvsp: ENSP00000289893.4:p.Lys1077Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+7146G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+7146G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+7146G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+7146G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7911G>T
  hgvsp: ENSP00000455274.1:p.Lys2637Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7926G>T
  hgvsp: ENSP00000362006.3:p.Lys2642Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+7146G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.8022G>T
  hgvsp: ENSP00000455823.1:p.Lys2674Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+7146G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+7146G>T
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Lys2642Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-39800172-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800172
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800172
    reference: chr 1
allele count: 1
allele frequency: 8.273899157717065e-6
allele num: 120862
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+7147A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+7147A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7912A>C
  hgvsp: ENSP00000455274.1:p.Ile2638Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7927A>C
  hgvsp: ENSP00000362006.3:p.Ile2643Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.8023A>C
  hgvsp: ENSP00000455823.1:p.Ile2675Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+7147A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+7147A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+7147A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3232A>C
  hgvsp: ENSP00000289893.4:p.Ile1078Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+7147A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+7147A>C
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile2643Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-39800176-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800176
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800176
    reference: chr 1
allele count: 1
allele frequency: 8.272667107875579e-6
allele num: 120880
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.8027A>T
  hgvsp: ENSP00000455823.1:p.Asp2676Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+7151A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7916A>T
  hgvsp: ENSP00000455274.1:p.Asp2639Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+7151A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7931A>T
  hgvsp: ENSP00000362006.3:p.Asp2644Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+7151A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+7151A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+7151A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3236A>T
  hgvsp: ENSP00000289893.4:p.Asp1079Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+7151A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+7151A>T
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15959
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp2644Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

1-39800179-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800179
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800179
    reference: chr 1
allele count: 1
allele frequency: 8.272393368849475e-6
allele num: 120884
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+7154T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+7154T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+7154T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3239T>A
  hgvsp: ENSP00000289893.4:p.Ile1080Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+7154T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.8030T>A
  hgvsp: ENSP00000455823.1:p.Ile2677Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+7154T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+7154T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7934T>A
  hgvsp: ENSP00000362006.3:p.Ile2645Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7919T>A
  hgvsp: ENSP00000455274.1:p.Ile2640Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+7154T>A
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile2645Asn
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

1-39800182-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39800182
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39800182
    reference: chr 1
allele count: 1
allele frequency: 8.272119647938589e-6
allele num: 120888
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.5076+7157A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.8033A>G
  hgvsp: ENSP00000455823.1:p.Glu2678Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.7937A>G
  hgvsp: ENSP00000362006.3:p.Glu2646Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2029+7157A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.3242A>G
  hgvsp: ENSP00000289893.4:p.Glu1081Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.4629+7157A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.4629+7157A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2029+7157A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.4629+7157A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.7922A>G
  hgvsp: ENSP00000455274.1:p.Glu2641Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.4629+7157A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu2646Gly
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8620
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1290
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2124
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1210
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34083
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3240
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3302
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6362
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.918666e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-2

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: -6.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.405e0

FS
type: SiteQuality
SIO_000300: 9.370000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.16e-1

QD
type: SiteQuality
SIO_000300: 1.351e1

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2124
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1208
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3244
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34071
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3298
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1289
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6362
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8612
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 80
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.457e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.17e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

QD
type: SiteQuality
SIO_000300: 2.969e1

DP
type: SiteQuality
SIO_000300: 1.918278e6

GenotypeQuality
all individuals: 34119
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3301
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3245
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8620
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1208
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1289
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2124
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6362
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 68
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.918483e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.405e0

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 1.209e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.44e0

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-2

QD
type: SiteQuality
SIO_000300: 1.432e1

GenotypeQuality
all individuals: 3246
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8628
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 109
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6365
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34155
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1290
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2124
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3302
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998590662388677e-5
allele num: 66698
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.919327e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.48e0

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

QD
type: SiteQuality
SIO_000300: 1.366e1

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

GenotypeQuality
all individuals: 3246
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1290
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3302
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8628
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2124
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

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

Other
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Latino
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European (Non-Finnish)
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African
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East Asian
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South Asian
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DP
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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QD
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FS
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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FS
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MQRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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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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European (Finnish)
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Latino
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European (Non-Finnish)
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African
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South Asian
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East Asian
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MQ
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MQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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VQSLOD
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QD
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BaseQRankSum
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ReadPosRankSum
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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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European (Non-Finnish)
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Latino
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African
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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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DP
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QD
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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Latino
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South Asian
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East Asian
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ClippingRankSum
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VQSLOD
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SIO_000300: -1.144e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.088e0

QD
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SIO_000300: 1.518e1

MQRankSum
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SIO_000300: 1.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.161e0

DP
type: SiteQuality
SIO_000300: 1.916152e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.25e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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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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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
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SIO_000300: 1.211e1

FS
type: SiteQuality
SIO_000300: 2.001e0

BaseQRankSum
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SIO_000300: -8.006e0

DP
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SIO_000300: 1.915872e6

VQSLOD
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MQRankSum
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SIO_000300: 2.37e-1

InbreedingCoeff
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SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

South Asian
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allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
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SIO_000300: 1.915691e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -2.0e-4

ClippingRankSum
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SIO_000300: -8.599999999999999e-2

MQRankSum
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SIO_000300: 1.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.827e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e-1

QD
type: SiteQuality
SIO_000300: 1.302e1

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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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

African
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allele count: 3
allele frequency: 2.903038513644281e-4
allele num: 10334
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-2

FS
type: SiteQuality
SIO_000300: 1.192e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
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SIO_000300: 4.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.91e-1

DP
type: SiteQuality
SIO_000300: 1.914489e6

QD
type: SiteQuality
SIO_000300: 1.592e1

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.14e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

South Asian
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allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 1.539e1

ClippingRankSum
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DP
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ReadPosRankSum
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MQ
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SIO_000300: 5.959e1

BaseQRankSum
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SIO_000300: 1.43e0

InbreedingCoeff
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FS
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SIO_000300: 4.422e0

MQRankSum
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SIO_000300: 5.18e-1

VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

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

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

South Asian
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allele frequency: 6.058403004967891e-5
allele num: 16506
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MQRankSum
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MQ
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BaseQRankSum
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DP
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FS
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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QD
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

African
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allele frequency: 9.714396735962697e-5
allele num: 10294
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.000750187546887e-5
allele num: 66650
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

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

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

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.845e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.194e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

FS
type: SiteQuality
SIO_000300: 2.224e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.44e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.44e-1

MQ
type: SiteQuality
SIO_000300: 5.323e1

DP
type: SiteQuality
SIO_000300: 1.911985e6

GenotypeQuality
all individuals: 76
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001290554938624e-5
allele num: 66638
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 8.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e-1

QD
type: SiteQuality
SIO_000300: 1.41e1

FS
type: SiteQuality
SIO_000300: 4.512e0

DP
type: SiteQuality
SIO_000300: 1.912009e6

ClippingRankSum
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SIO_000300: 1.41e-1

GenotypeQuality
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.956181533646322e-4
allele num: 10224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.23e-2

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.71e1

BaseQRankSum
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SIO_000300: -2.16e0

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

DP
type: SiteQuality
SIO_000300: 1.911665e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.72e-1

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.911214e6

ReadPosRankSum
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SIO_000300: 2.26e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 1.296e1

FS
type: SiteQuality
SIO_000300: 5.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

MQRankSum
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SIO_000300: 2.79e0

VQSLOD
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SIO_000300: -1.924e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.728e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.25e-1

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.263e1

DP
type: SiteQuality
SIO_000300: 1.910162e6

VQSLOD
type: SiteQuality
SIO_000300: -5.009e-1

ClippingRankSum
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SIO_000300: -2.51e-1

BaseQRankSum
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SIO_000300: -3.576e0

MQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 124

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1

Latino
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allele count: 7
allele frequency: 6.051175656984786e-4
allele num: 11568
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

African
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allele count: 117
allele frequency: 1.152482269503546e-2
allele num: 10152
num of homozygotes: 1

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
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QD
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 5.36e-1

MQRankSum
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MQ
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SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.17e-2

VQSLOD
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SIO_000300: 6.17e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.313743637204998e-4
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.72e0

MQ
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SIO_000300: 6.0e1

QD
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 1.0656e1

ReadPosRankSum
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VQSLOD
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MQRankSum
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DP
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SIO_000300: 1.908289e6

ClippingRankSum
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9620
bin: 9.75e1
variant carriers: 4913

GenotypeQuality
all individuals: 1885
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variant carriers: 3

South Asian
type: Population
allele count: 955
allele frequency: 5.78507390356191e-2
allele num: 16508
num of homozygotes: 30

European (Finnish)
type: Population
allele count: 283
allele frequency: 4.281391830559758e-2
allele num: 6610
num of homozygotes: 5

African
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allele count: 1043
allele frequency: 1.033082408874802e-1
allele num: 10096
num of homozygotes: 49

European (Non-Finnish)
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allele count: 2500
allele frequency: 3.754994142209138e-2
allele num: 66578
num of homozygotes: 51

Other
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allele count: 39
allele frequency: 4.304635761589404e-2
allele num: 906
num of homozygotes: 0

East Asian
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allele frequency: 2.313743637204998e-4
allele num: 8644
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Latino
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allele count: 248
allele frequency: 2.144586648218609e-2
allele num: 11564
num of homozygotes: 5

InbreedingCoeff
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SIO_000300: 1.59e-2

VQSLOD
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MQ
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QD
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FS
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SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 1.15e-1

ClippingRankSum
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SIO_000300: -3.35e-1

ReadPosRankSum
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SIO_000300: 4.2e-1

BaseQRankSum
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SIO_000300: 3.37e-1

DP
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SIO_000300: 2.058704e6

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: 2.423361201987156e-4
allele num: 16506
num of homozygotes: 0

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

African
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allele count: 3
allele frequency: 2.980922098569157e-4
allele num: 10064
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.501907422426482e-5
allele num: 66582
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.739e0

MQ
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InbreedingCoeff
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SIO_000300: 2.6e-3

ReadPosRankSum
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MQRankSum
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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QD
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VQSLOD
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DP
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SIO_000300: 1.868528e6

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

East Asian
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allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 2.9e-3

VQSLOD
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QD
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FS
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MQRankSum
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BaseQRankSum
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SIO_000300: -1.0e-1

ReadPosRankSum
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SIO_000300: 1.86e0

ClippingRankSum
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SIO_000300: -1.349e0

DP
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SIO_000300: 1.868071e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 906
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10046
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16504
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.867942e6

InbreedingCoeff
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SIO_000300: -5.0e-4

BaseQRankSum
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SIO_000300: -2.224e0

VQSLOD
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SIO_000300: 2.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-3

FS
type: SiteQuality
SIO_000300: 2.483e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.245e1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

GenotypeQuality
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variant carriers: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10016
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503216884132043e-5
allele num: 66524
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.05e0

MQ
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ClippingRankSum
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QD
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DP
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InbreedingCoeff
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VQSLOD
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16506
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503397678753984e-5
allele num: 66516
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10006
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European (Finnish)
type: Population
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allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66504
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Latino
type: Population
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allele frequency: 0.0e0
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African
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allele frequency: 2.999400119976005e-4
allele num: 10002
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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Other
type: Population
allele count: 0
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South Asian
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MQ
type: SiteQuality
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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DP
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FS
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

East Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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Latino
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allele frequency: 8.643042350907519e-5
allele num: 11570
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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MQ
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QD
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DP
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MQRankSum
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FS
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ClippingRankSum
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SIO_000300: 3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.568e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3173
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3331
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10000
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66496
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.323e0

DP
type: SiteQuality
SIO_000300: 1.867904e6

MQ
type: SiteQuality
SIO_000300: 5.933e1

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.58e-1

QD
type: SiteQuality
SIO_000300: 8.699999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
SIO_000300: 1.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504528631179851e-5
allele num: 66466
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.54e0

VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -3.117e0

MQRankSum
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SIO_000300: -7.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

QD
type: SiteQuality
SIO_000300: 1.241e1

DP
type: SiteQuality
SIO_000300: 1.867502e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.75e-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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9966
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66466
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.867489e6

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQRankSum
type: SiteQuality
SIO_000300: 6.28e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.245e1

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 55
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9962
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66466
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.508e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.49e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.867496e6

QD
type: SiteQuality
SIO_000300: 1.283e1

GenotypeQuality
all individuals: 27
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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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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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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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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2059
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9958
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.49e-1

FS
type: SiteQuality
SIO_000300: 4.091e0

VQSLOD
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BaseQRankSum
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SIO_000300: -3.012e0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.125e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 1.86733e6

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.003613006824568e-4
allele num: 9964
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66464
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.553e-1

InbreedingCoeff
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.988e1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

ClippingRankSum
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SIO_000300: 1.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.535e0

QD
type: SiteQuality
SIO_000300: 1.494e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.5e0
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9910
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66422
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

Latino
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allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66424
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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VQSLOD
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DP
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MQ
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QD
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ReadPosRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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SIO_000300: -5.0e-4

MQRankSum
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ClippingRankSum
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SIO_000300: 1.38e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66416
num of homozygotes: 0

African
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FS
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QD
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MQ
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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MQRankSum
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66416
num of homozygotes: 0

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

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

FS
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VQSLOD
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MQRankSum
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MQ
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BaseQRankSum
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DP
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ClippingRankSum
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SIO_000300: 8.22e-1

ReadPosRankSum
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SIO_000300: 8.799999999999999e-2

InbreedingCoeff
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QD
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66410
num of homozygotes: 0

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

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

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

East Asian
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African
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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

VQSLOD
type: SiteQuality
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InbreedingCoeff
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MQ
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MQRankSum
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FS
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SIO_000300: 1.005e0

DP
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ClippingRankSum
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QD
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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bin: 8.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66406
num of homozygotes: 0

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

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

Latino
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allele count: 0
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BaseQRankSum
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MQ
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DP
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MQRankSum
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FS
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QD
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66400
num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

Other
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MQ
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VQSLOD
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QD
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MQRankSum
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FS
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ClippingRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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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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African
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num of homozygotes: 0

Latino
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Other
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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South Asian
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VQSLOD
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MQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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FS
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QD
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BaseQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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European (Non-Finnish)
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East Asian
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South Asian
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allele num: 16506
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MQRankSum
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SIO_000300: 6.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.94e-1

QD
type: SiteQuality
SIO_000300: 1.515e1

DP
type: SiteQuality
SIO_000300: 1.866293e6

FS
type: SiteQuality
SIO_000300: 1.149e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.74e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.91e-1

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1135
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 1.002807862013638e-4
allele num: 9972
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66418
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 8.67e-1

BaseQRankSum
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QD
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SIO_000300: 1.54e1

MQRankSum
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SIO_000300: 1.32e0

InbreedingCoeff
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SIO_000300: 1.3e-3

ClippingRankSum
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SIO_000300: -5.82e-1

MQ
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SIO_000300: 5.977e1

DP
type: SiteQuality
SIO_000300: 1.866787e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.55e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505615947484116e-5
allele num: 66418
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.008e0

InbreedingCoeff
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SIO_000300: 4.0e-4

VQSLOD
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 5.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 1.271e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

DP
type: SiteQuality
SIO_000300: 1.867019e6

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9990
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66418
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.271e1

VQSLOD
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SIO_000300: 8.71e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

InbreedingCoeff
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.008e0

FS
type: SiteQuality
SIO_000300: 5.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

DP
type: SiteQuality
SIO_000300: 1.867019e6

GenotypeQuality
all individuals: 2044
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2

GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.001200720432259e-4
allele num: 9994
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66412
num of homozygotes: 0

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

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

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

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

BaseQRankSum
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SIO_000300: -1.036e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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MQRankSum
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FS
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SIO_000300: 8.702e0

MQ
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.06e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66428
num of homozygotes: 0

South Asian
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allele count: 7
allele frequency: 4.241910071506484e-4
allele num: 16502
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10026
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66434
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.212415130940834e-4
allele num: 16496
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 208

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.009962977455377e-5
allele num: 66446
num of homozygotes: 0

African
type: Population
allele count: 190
allele frequency: 1.889419252187749e-2
allele num: 10056
num of homozygotes: 2

Latino
type: Population
allele count: 14
allele frequency: 1.210235131396957e-3
allele num: 11568
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

South Asian
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allele count: 3
allele frequency: 1.818402230573403e-4
allele num: 16498
num of homozygotes: 0

FS
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SIO_000300: 0.0e0

MQRankSum
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DP
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QD
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ReadPosRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Finnish)
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Other
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European (Non-Finnish)
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allele num: 66442
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East Asian
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allele num: 8644
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Latino
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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VQSLOD
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FS
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DP
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MQ
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ReadPosRankSum
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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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South Asian
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allele frequency: 0.0e0
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Other
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DP
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ReadPosRankSum
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MQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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BaseQRankSum
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FS
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

South Asian
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African
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Other
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Latino
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East Asian
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European (Non-Finnish)
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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MQ
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ReadPosRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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allele num: 6612
num of homozygotes: 0

African
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European (Non-Finnish)
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allele num: 66464
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Latino
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East Asian
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Other
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ReadPosRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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MQRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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num of homozygotes: 0

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

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

Other
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Latino
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South Asian
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African
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European (Finnish)
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East Asian
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InbreedingCoeff
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MQ
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 7.880698351115422e-4
allele num: 16496
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66468
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.865021e6

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.852e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.284e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2037
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3158
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8852
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3288
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5060
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35133
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.864392e6

MQRankSum
type: SiteQuality
SIO_000300: -6.3e-2

QD
type: SiteQuality
SIO_000300: 1.632e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 1141
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5061
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 35188
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2037
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8859
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3156
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3282
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.811616954474098e-5
allele num: 10192
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.35e-1

QD
type: SiteQuality
SIO_000300: 1.247e1

FS
type: SiteQuality
SIO_000300: 1.994e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

DP
type: SiteQuality
SIO_000300: 1.864377e6

MQRankSum
type: SiteQuality
SIO_000300: 8.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 73
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3156
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2038
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3279
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8852
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35176
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5057
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 73
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66482
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.289e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.864046e6

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

QD
type: SiteQuality
SIO_000300: 4.39e0

FS
type: SiteQuality
SIO_000300: 9.797000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -1.802e0

GenotypeQuality
all individuals: 67
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3155
bin: 7.75e1
variant carriers: 0