1-39950445-GGAAACAACA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39950445
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39950436
    reference: chr 1
allele count: 5
allele frequency: 4.156137784279825e-5
allele num: 120304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  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
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.477_485delAAACAACAG
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.638_646delAAACAACAG
  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
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  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
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  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
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  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
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: GGAAACAACA
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-39950457-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39950457
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39950457
    reference: chr 1
allele count: 1
allele frequency: 8.371002846140968e-6
allele num: 119460
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.16036+55C>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.16036+55C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1109+55C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.849+55C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.648C>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.15646+55C>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.13046+55C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.22522+55C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.487C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.17560+55C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.22411+55C>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.16036+55C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.21910+55C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1374+55C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10172
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

1-39950459-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39950459
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39950459
    reference: chr 1
allele count: 579
allele frequency: 4.86170587938939e-3
allele num: 119094
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.13046+57A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.17560+57A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.650A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1374+57A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.849+57A>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.16036+57A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.22411+57A>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.15646+57A>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.16036+57A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.489A>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.16036+57A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.22522+57A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1109+57A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.21910+57A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 16227
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 3.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 64
genotype quality: GenotypeQuality
num of homozygotes: 3
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

1-39950461-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39950461
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39950461
    reference: chr 1
allele count: 1
allele frequency: 8.406186953597848e-6
allele num: 118960
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15646+59G>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.16036+59G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.652G>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.16036+59G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.491G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1109+59G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1374+59G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.21910+59G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.22411+59G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.849+59G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.17560+59G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.22522+59G>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.16036+59G>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.13046+59G>A
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

1-39950464-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39950464
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39950464
    reference: chr 1
allele count: 1
allele frequency: 8.445375312478886e-6
allele num: 118408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.22411+62G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.21910+62G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.494G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1109+62G>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.16036+62G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.655G>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.13046+62G>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.16036+62G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.849+62G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.22522+62G>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.15646+62G>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.16036+62G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.17560+62G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1374+62G>T
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

1-39950471-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39950471
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39950470
    reference: chr 1
allele count: 1
allele frequency: 8.577653497109331e-6
allele num: 116582
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.849+70delC
  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.16036+70delC
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.502delC
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.22522+70delC
  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.16036+70delC
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1374+70delC
  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.15646+70delC
  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.16036+70delC
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1109+70delC
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.663delC
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.17560+70delC
  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.13046+70delC
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.21910+70delC
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.22411+70delC
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: TC
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum

1-39950482-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39950482
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39950482
    reference: chr 1
allele count: 1
allele frequency: 9.008197459688316e-6
allele num: 111010
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.13046+80A>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.15646+80A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.673A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.849+80A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.512A>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.16036+80A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1109+80A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.22411+80A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.21910+80A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.22522+80A>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.16036+80A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1374+80A>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.16036+80A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.17560+80A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

1-39950484-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39950484
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39950484
    reference: chr 1
allele count: 1
allele frequency: 9.127918651988973e-6
allele num: 109554
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.16036+82G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.514G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.22522+82G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.22411+82G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.675G>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.13046+82G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.849+82G>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.16036+82G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1109+82G>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.15646+82G>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.16036+82G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.17560+82G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1374+82G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.21910+82G>A
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-39950489-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39950489
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39950489
    reference: chr 1
allele count: 32
allele frequency: 3.005823783580688e-4
allele num: 106460
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15646+87G>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.16036+87G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.519G>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.16036+87G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.680G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.21910+87G>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.13046+87G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.22411+87G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1374+87G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1109+87G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.22522+87G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.849+87G>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.16036+87G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.17560+87G>A
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6459
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8955
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22020
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5463
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 14043
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

1-39950493-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39950493
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39950493
    reference: chr 1
allele count: 1
allele frequency: 9.595455592231518e-6
allele num: 104216
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.22411+91A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.22522+91A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.849+91A>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.15646+91A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.523A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.684A>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.13046+91A>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.16036+91A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.17560+91A>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.16036+91A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1374+91A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.21910+91A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1109+91A>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.16036+91A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

1-39950511-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39950511
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39950511
    reference: chr 1
allele count: 3
allele frequency: 3.142150907034229e-5
allele num: 95476
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.702T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.17560+109T>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.16036+109T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.541T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.21910+109T>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.13046+109T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1374+109T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.22522+109T>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.15646+109T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.22411+109T>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.16036+109T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1109+109T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.849+109T>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.16036+109T>C
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4116
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10216
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

1-39950519-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39950519
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39950519
    reference: chr 1
allele count: 2
allele frequency: 2.185840127653063e-5
allele num: 91498
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16036+117C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.710C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.17560+117C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1374+117C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.849+117C>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.16036+117C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.549C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.22522+117C>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.15646+117C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.21910+117C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.22411+117C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1109+117C>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.13046+117C>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.16036+117C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10859
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7029
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-39950524-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39950524
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39950524
    reference: chr 1
allele count: 53
allele frequency: 5.900558883124401e-4
allele num: 89822
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1374+122A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.22522+122A>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.16036+122A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.22411+122A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.849+122A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.715A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.21910+122A>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.15646+122A>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.16036+122A>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.16036+122A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.554A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1109+122A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.17560+122A>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.13046+122A>C
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5282
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3802
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11357
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 25162
  bin: 1.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum

1-39950536-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39950536
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39950536
    reference: chr 1
allele count: 5
allele frequency: 6.265193093251134e-5
allele num: 79806
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.22522+134C>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.16036+134C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1374+134C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1109+134C>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.16036+134C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.17560+134C>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.16036+134C>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.13046+134C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.566C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.21910+134C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.727C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.849+134C>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.15646+134C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.22411+134C>G
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11034
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14953
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22414
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

1-39950539-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39950539
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39950539
    reference: chr 1
allele count: 3
allele frequency: 3.951632024025923e-5
allele num: 75918
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.22522+137A>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.16036+137A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.730A>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.15646+137A>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.16036+137A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1374+137A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.569A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.17560+137A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.849+137A>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.13046+137A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.22411+137A>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.16036+137A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1109+137A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.21910+137A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21073
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10770
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16489
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

1-39950541-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39950541
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39950541
    reference: chr 1
allele count: 1777
allele frequency: 2.453877596111357e-2
allele num: 72416
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.16036+139G>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.15646+139G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.732G>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.16036+139G>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.13046+139G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.21910+139G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.849+139G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.571G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1374+139G>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.16036+139G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.22522+139G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1109+139G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.17560+139G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.22411+139G>A
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4532
  bin: 2.5e0
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 20454
  bin: 1.25e1
  variant carriers: 1083
genotype depth: GenotypeDepth
  all individuals: 17277
  bin: 7.5e0
  variant carriers: 918
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 2.25e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10571
  bin: 1.75e1
  variant carriers: 408
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 2.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
num of homozygotes: 131
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

1-39951163-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951163
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951163
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 41588
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1354C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.22412-47C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.850-47C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1375-47C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.17561-47C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.21911-47C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1110-47C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1193C>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.15647-47C>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.16037-47C>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.13047-47C>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.16037-47C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.22523-47C>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.16037-47C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13668
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27729
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

1-39951166-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951166
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951166
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 42070
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.21911-44C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.22523-44C>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.16037-44C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.17561-44C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1375-44C>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.16037-44C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.22412-44C>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.13047-44C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1196C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.850-44C>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.15647-44C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1357C>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.16037-44C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1110-44C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 13793
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10809
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27899
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

1-39951167-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951167
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951167
    reference: chr 1
allele count: 5
allele frequency: 1.174425705829849e-4
allele num: 42574
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.16037-43A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1375-43A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.21911-43A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.22412-43A>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.16037-43A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1358A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.17561-43A>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.13047-43A>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.15647-43A>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.16037-43A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1197A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.22523-43A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1110-43A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.850-43A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28010
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13859
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10614
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

1-39951170-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951170
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951170
    reference: chr 1
allele count: 1
allele frequency: 2.32709671413944e-5
allele num: 42972
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1361C>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.16037-40C>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.15647-40C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.850-40C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.17561-40C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1200C>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.16037-40C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1375-40C>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.13047-40C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.22412-40C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1110-40C>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.16037-40C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.22523-40C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.21911-40C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14054
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9839
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

1-39951177-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951177
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951177
    reference: chr 1
allele count: 18
allele frequency: 3.967029576409398e-4
allele num: 45374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.22412-33T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.17561-33T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1368T>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.16037-33T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1375-33T>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.13047-33T>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.16037-33T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.21911-33T>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.15647-33T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1110-33T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.22523-33T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1207T>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.16037-33T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.850-33T>C
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13738
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30158
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

1-39951181-A-AAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951181
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951183
    reference: chr 1
allele count: 1
allele frequency: 2.148412323293086e-5
allele num: 46546
alternate allele: AAT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1212_1213insTA
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.21911-28_21911-27insTA
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.17561-28_17561-27insTA
  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.15647-28_15647-27insTA
  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.16037-28_16037-27insTA
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.850-28_850-27insTA
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1373_1374insTA
  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.16037-28_16037-27insTA
  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.16037-28_16037-27insTA
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.22412-28_22412-27insTA
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.22523-28_22523-27insTA
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1110-28_1110-27insTA
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1375-28_1375-27insTA
  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.13047-28_13047-27insTA
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31038
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5744
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12915
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

1-39951189-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951189
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951189
    reference: chr 1
allele count: 1
allele frequency: 1.885938442969222e-5
allele num: 53024
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.850-21T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.17561-21T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.22412-21T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1375-21T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.22523-21T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1110-21T>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.16037-21T>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.15647-21T>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.16037-21T>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.16037-21T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.21911-21T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1380T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1219T>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.13047-21T>G
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10652
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

1-39951195-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951195
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951195
    reference: chr 1
allele count: 2
allele frequency: 3.380548324938305e-5
allele num: 59162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.17561-15A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1225A>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.16037-15A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1386A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.850-15A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.22523-15A>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.16037-15A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1110-15A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.22412-15A>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.16037-15A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.21911-15A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1375-15A>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.15647-15A>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.13047-15A>T
  variant of: http://identifiers.org/hgnc/13664
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8574
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP

1-39951206-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951206
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951206
    reference: chr 1
allele count: 1
allele frequency: 1.25624984296877e-5
allele num: 79602
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13047-4C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.17561-4C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.22523-4C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1110-4C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16037-4C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1397C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.22412-4C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15647-4C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16037-4C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.21911-4C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.850-4C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1375-4C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1236C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16037-4C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28500
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.16037-4C>T
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

1-39951216-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951216
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951216
    reference: chr 1
allele count: 1
allele frequency: 1.007150770470339e-5
allele num: 99290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16043A>T
  hgvsp: ENSP00000354573.2:p.Lys5348Ile
  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.22418A>T
  hgvsp: ENSP00000455274.1:p.Lys7473Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1246A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16043A>T
  hgvsp: ENSP00000439537.1:p.Lys5348Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1116A>T
  hgvsp: ENSP00000391512.1:p.Lys373Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1381A>T
  hgvsp: ENSP00000353231.4:p.Lys461Ile
  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.22529A>T
  hgvsp: ENSP00000455823.1:p.Lys7510Ile
  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.17567A>T
  hgvsp: ENSP00000289893.4:p.Lys5856Ile
  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.21917A>T
  hgvsp: ENSP00000362006.3:p.Lys7306Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.856A>T
  hgvsp: ENSP00000407776.1:p.Lys286Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15653A>T
  hgvsp: ENSP00000444364.1:p.Lys5218Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16043A>T
  hgvsp: ENSP00000313438.7:p.Lys5348Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13053A>T
  hgvsp: ENSP00000362016.2:p.Lys4352Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1407A>T
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys5348Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-39951226-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951226
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951226
    reference: chr 1
allele count: 1
allele frequency: 8.955437741796819e-6
allele num: 111664
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1391C>A
  hgvsp: ENST00000360115.4:c.1391C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16053C>A
  hgvsp: ENST00000317713.7:c.16053C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15663C>A
  hgvsp: ENST00000539005.1:c.15663C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.866C>A
  hgvsp: ENST00000442046.1:c.866C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1256C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16053C>A
  hgvsp: ENST00000361689.2:c.16053C>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.21927C>A
  hgvsp: ENST00000372915.3:c.21927C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1126C>A
  hgvsp: ENST00000446276.1:c.1126C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13063C>A
  hgvsp: ENST00000372925.2:c.13063C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16053C>A
  hgvsp: ENST00000545844.1:c.16053C>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.22539C>A
  hgvsp: ENST00000567887.1:c.22539C>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.17577C>A
  hgvsp: ENST00000289893.4:c.17577C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1417C>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.22428C>A
  hgvsp: ENST00000564288.1:c.22428C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41912
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala5351Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ

1-39951228-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951228
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951228
    reference: chr 1
allele count: 1
allele frequency: 8.830645873439184e-6
allele num: 113242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16055G>T
  hgvsp: ENSP00000354573.2:p.Ser5352Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1393G>T
  hgvsp: ENSP00000353231.4:p.Ser465Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1258G>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.21929G>T
  hgvsp: ENSP00000362006.3:p.Ser7310Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13065G>T
  hgvsp: ENSP00000362016.2:p.Ser4356Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.868G>T
  hgvsp: ENSP00000407776.1:p.Ser290Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16055G>T
  hgvsp: ENSP00000313438.7:p.Ser5352Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1419G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1128G>T
  hgvsp: ENSP00000391512.1:p.Ser377Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15665G>T
  hgvsp: ENSP00000444364.1:p.Ser5222Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16055G>T
  hgvsp: ENSP00000439537.1:p.Ser5352Ile
  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.17579G>T
  hgvsp: ENSP00000289893.4:p.Ser5860Ile
  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.22541G>T
  hgvsp: ENSP00000455823.1:p.Ser7514Ile
  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.22430G>T
  hgvsp: ENSP00000455274.1:p.Ser7477Ile
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser5352Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/1-39951230-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951230
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951230
    reference: chr 1
allele count: 5
allele frequency: 4.378743825971206e-5
allele num: 114188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.22432C>A
  hgvsp: ENSP00000455274.1:p.Arg7478Ser
  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.17581C>A
  hgvsp: ENSP00000289893.4:p.Arg5861Ser
  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.21931C>A
  hgvsp: ENSP00000362006.3:p.Arg7311Ser
  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.22543C>A
  hgvsp: ENSP00000455823.1:p.Arg7515Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15667C>A
  hgvsp: ENSP00000444364.1:p.Arg5223Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.870C>A
  hgvsp: ENSP00000407776.1:p.Arg291Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1130C>A
  hgvsp: ENSP00000391512.1:p.Arg378Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1395C>A
  hgvsp: ENSP00000353231.4:p.Arg466Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13067C>A
  hgvsp: ENSP00000362016.2:p.Arg4357Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16057C>A
  hgvsp: ENSP00000439537.1:p.Arg5353Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16057C>A
  hgvsp: ENSP00000354573.2:p.Arg5353Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1421C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16057C>A
  hgvsp: ENSP00000313438.7:p.Arg5353Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1260C>A
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8550
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg5353Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

1-39951230-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951230
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951230
    reference: chr 1
allele count: 2
allele frequency: 1.751497530388482e-5
allele num: 114188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15667C>T
  hgvsp: ENSP00000444364.1:p.Arg5223Cys
  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.22432C>T
  hgvsp: ENSP00000455274.1:p.Arg7478Cys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16057C>T
  hgvsp: ENSP00000354573.2:p.Arg5353Cys
  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.21931C>T
  hgvsp: ENSP00000362006.3:p.Arg7311Cys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13067C>T
  hgvsp: ENSP00000362016.2:p.Arg4357Cys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1395C>T
  hgvsp: ENSP00000353231.4:p.Arg466Cys
  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.17581C>T
  hgvsp: ENSP00000289893.4:p.Arg5861Cys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.870C>T
  hgvsp: ENSP00000407776.1:p.Arg291Cys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16057C>T
  hgvsp: ENSP00000439537.1:p.Arg5353Cys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1130C>T
  hgvsp: ENSP00000391512.1:p.Arg378Cys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1260C>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.22543C>T
  hgvsp: ENSP00000455823.1:p.Arg7515Cys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1421C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16057C>T
  hgvsp: ENSP00000313438.7:p.Arg5353Cys
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42603
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg5353Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-39951231-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951231
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951231
    reference: chr 1
allele count: 2
allele frequency: 1.729325908760765e-5
allele num: 115652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.21932G>A
  hgvsp: ENSP00000362006.3:p.Arg7311His
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15668G>A
  hgvsp: ENSP00000444364.1:p.Arg5223His
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1261G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1131G>A
  hgvsp: ENSP00000391512.1:p.Arg378His
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.871G>A
  hgvsp: ENSP00000407776.1:p.Arg291His
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1422G>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.22544G>A
  hgvsp: ENSP00000455823.1:p.Arg7515His
  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.17582G>A
  hgvsp: ENSP00000289893.4:p.Arg5861His
  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.22433G>A
  hgvsp: ENSP00000455274.1:p.Arg7478His
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13068G>A
  hgvsp: ENSP00000362016.2:p.Arg4357His
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16058G>A
  hgvsp: ENSP00000439537.1:p.Arg5353His
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16058G>A
  hgvsp: ENSP00000354573.2:p.Arg5353His
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16058G>A
  hgvsp: ENSP00000313438.7:p.Arg5353His
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1396G>A
  hgvsp: ENSP00000353231.4:p.Arg466His
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg5353His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

1-39951233-C-CCTGGGAGTCGGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951233
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951245
    reference: chr 1
allele count: 2
allele frequency: 1.712974065572647e-5
allele num: 116756
alternate allele: CCTGGGAGTCGGG
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsp: ENSP00000391512.1:p.Ala383_Arg386dup
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsp: ENSP00000362006.3:p.Ala7316_Arg7319dup
  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
  hgvsp: ENSP00000289893.4:p.Ala5866_Arg5869dup
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsp: ENSP00000444364.1:p.Ala5228_Arg5231dup
  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
  hgvsp: ENSP00000455823.1:p.Ala7520_Arg7523dup
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsp: ENSP00000407776.1:p.Ala296_Arg299dup
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsp: ENSP00000439537.1:p.Ala5358_Arg5361dup
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsp: ENSP00000362016.2:p.Ala4362_Arg4365dup
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsp: ENSP00000353231.4:p.Ala471_Arg474dup
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsp: ENSP00000313438.7:p.Ala5358_Arg5361dup
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsp: ENSP00000354573.2:p.Ala5358_Arg5361dup
  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
  hgvsp: ENSP00000455274.1:p.Ala7483_Arg7486dup
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala5358_Arg5361dup
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

1-39951242-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951242
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951242
    reference: chr 1
allele count: 1
allele frequency: 8.429144610404936e-6
allele num: 118636
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.882C>T
  hgvsp: ENSP00000407776.1:p.Arg295Trp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1142C>T
  hgvsp: ENSP00000391512.1:p.Arg382Trp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16069C>T
  hgvsp: ENSP00000354573.2:p.Arg5357Trp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1433C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15679C>T
  hgvsp: ENSP00000444364.1:p.Arg5227Trp
  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.21943C>T
  hgvsp: ENSP00000362006.3:p.Arg7315Trp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16069C>T
  hgvsp: ENSP00000313438.7:p.Arg5357Trp
  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.22444C>T
  hgvsp: ENSP00000455274.1:p.Arg7482Trp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1407C>T
  hgvsp: ENSP00000353231.4:p.Arg470Trp
  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.17593C>T
  hgvsp: ENSP00000289893.4:p.Arg5865Trp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16069C>T
  hgvsp: ENSP00000439537.1:p.Arg5357Trp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1272C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13079C>T
  hgvsp: ENSP00000362016.2:p.Arg4361Trp
  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.22555C>T
  hgvsp: ENSP00000455823.1:p.Arg7519Trp
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg5357Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

1-39951243-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951243
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951243
    reference: chr 1
allele count: 110
allele frequency: 9.243231433709225e-4
allele num: 119006
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.17594G>A
  hgvsp: ENSP00000289893.4:p.Arg5865Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16070G>A
  hgvsp: ENSP00000354573.2:p.Arg5357Gln
  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.22445G>A
  hgvsp: ENSP00000455274.1:p.Arg7482Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15680G>A
  hgvsp: ENSP00000444364.1:p.Arg5227Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16070G>A
  hgvsp: ENSP00000313438.7:p.Arg5357Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1143G>A
  hgvsp: ENSP00000391512.1:p.Arg382Gln
  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.22556G>A
  hgvsp: ENSP00000455823.1:p.Arg7519Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.883G>A
  hgvsp: ENSP00000407776.1:p.Arg295Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1408G>A
  hgvsp: ENSP00000353231.4:p.Arg470Gln
  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.21944G>A
  hgvsp: ENSP00000362006.3:p.Arg7315Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13080G>A
  hgvsp: ENSP00000362016.2:p.Arg4361Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1434G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1273G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16070G>A
  hgvsp: ENSP00000439537.1:p.Arg5357Gln
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43282
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9564
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Arg5357Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

1-39951246-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951246
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951246
    reference: chr 1
allele count: 1
allele frequency: 8.376612497905846e-6
allele num: 119380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.22448C>T
  hgvsp: ENSP00000455274.1:p.Ala7483Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16073C>T
  hgvsp: ENSP00000354573.2:p.Ala5358Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1146C>T
  hgvsp: ENSP00000391512.1:p.Ala383Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.886C>T
  hgvsp: ENSP00000407776.1:p.Ala296Val
  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.17597C>T
  hgvsp: ENSP00000289893.4:p.Ala5866Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1411C>T
  hgvsp: ENSP00000353231.4:p.Ala471Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13083C>T
  hgvsp: ENSP00000362016.2:p.Ala4362Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1437C>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.21947C>T
  hgvsp: ENSP00000362006.3:p.Ala7316Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15683C>T
  hgvsp: ENSP00000444364.1:p.Ala5228Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16073C>T
  hgvsp: ENSP00000313438.7:p.Ala5358Val
  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.22559C>T
  hgvsp: ENSP00000455823.1:p.Ala7520Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16073C>T
  hgvsp: ENSP00000439537.1:p.Ala5358Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1276C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala5358Val
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

1-39951247-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951247
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951247
    reference: chr 1
allele count: 1
allele frequency: 8.364281173675934e-6
allele num: 119556
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16074T>C
  hgvsp: ENST00000317713.7:c.16074T>C(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.22449T>C
  hgvsp: ENST00000564288.1:c.22449T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13084T>C
  hgvsp: ENST00000372925.2:c.13084T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1147T>C
  hgvsp: ENST00000446276.1:c.1147T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15684T>C
  hgvsp: ENST00000539005.1:c.15684T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.887T>C
  hgvsp: ENST00000442046.1:c.887T>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.17598T>C
  hgvsp: ENST00000289893.4:c.17598T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1277T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1412T>C
  hgvsp: ENST00000360115.4:c.1412T>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.21948T>C
  hgvsp: ENST00000372915.3:c.21948T>C(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.22560T>C
  hgvsp: ENST00000567887.1:c.22560T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16074T>C
  hgvsp: ENST00000545844.1:c.16074T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16074T>C
  hgvsp: ENST00000361689.2:c.16074T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1438T>C
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala5358Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

1-39951247-T-TGGGAGTCGAGCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951247
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951259
    reference: chr 1
allele count: 6
allele frequency: 5.018568704205561e-5
allele num: 119556
alternate allele: TGGGAGTCGAGCC
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsp: ENSP00000439537.1:p.Gly5363_Ala5366dup
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsp: ENSP00000391512.1:p.Gly388_Ala391dup
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsp: ENSP00000407776.1:p.Gly301_Ala304dup
  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
  hgvsp: ENSP00000455823.1:p.Gly7525_Ala7528dup
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsp: ENSP00000353231.4:p.Gly476_Ala479dup
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsp: ENSP00000354573.2:p.Gly5363_Ala5366dup
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsp: ENSP00000362016.2:p.Gly4367_Ala4370dup
  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
  hgvsp: ENSP00000455274.1:p.Gly7488_Ala7491dup
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsp: ENSP00000444364.1:p.Gly5233_Ala5236dup
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsp: ENSP00000362006.3:p.Gly7321_Ala7324dup
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  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
  hgvsp: ENSP00000289893.4:p.Gly5871_Ala5874dup
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsp: ENSP00000313438.7:p.Gly5363_Ala5366dup
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9740
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly5363_Ala5366dup
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

1-39951247-TGGGAGTCGAGCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951247
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951235
    reference: chr 1
allele count: 1
allele frequency: 8.364281173675934e-6
allele num: 119556
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsp: ENSP00000353231.4:p.Gly476_Ala479del
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsp: ENSP00000362006.3:p.Gly7321_Ala7324del
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsp: ENSP00000391512.1:p.Gly388_Ala391del
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsp: ENSP00000439537.1:p.Gly5363_Ala5366del
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsp: ENSP00000407776.1:p.Gly301_Ala304del
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsp: ENSP00000354573.2:p.Gly5363_Ala5366del
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsp: ENSP00000313438.7:p.Gly5363_Ala5366del
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsp: ENSP00000362016.2:p.Gly4367_Ala4370del
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsp: ENSP00000455274.1:p.Gly7488_Ala7491del
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsp: ENSP00000455823.1:p.Gly7525_Ala7528del
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsp: ENSP00000289893.4:p.Gly5871_Ala5874del
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsp: ENSP00000444364.1:p.Gly5233_Ala5236del
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly5363_Ala5366del
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: TGGGAGTCGAGCC
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

1-39951252-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951252
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951252
    reference: chr 1
allele count: 1
allele frequency: 8.340561820244212e-6
allele num: 119896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16079G>A
  hgvsp: ENSP00000313438.7:p.Ser5360Asn
  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.22565G>A
  hgvsp: ENSP00000455823.1:p.Ser7522Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13089G>A
  hgvsp: ENSP00000362016.2:p.Ser4364Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16079G>A
  hgvsp: ENSP00000439537.1:p.Ser5360Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.892G>A
  hgvsp: ENSP00000407776.1:p.Ser298Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1417G>A
  hgvsp: ENSP00000353231.4:p.Ser473Asn
  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.22454G>A
  hgvsp: ENSP00000455274.1:p.Ser7485Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16079G>A
  hgvsp: ENSP00000354573.2:p.Ser5360Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1152G>A
  hgvsp: ENSP00000391512.1:p.Ser385Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15689G>A
  hgvsp: ENSP00000444364.1:p.Ser5230Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1282G>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.17603G>A
  hgvsp: ENSP00000289893.4:p.Ser5868Asn
  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.21953G>A
  hgvsp: ENSP00000362006.3:p.Ser7318Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1443G>A
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser5360Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

1-39951255-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951255
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951255
    reference: chr 1
allele count: 16
allele frequency: 1.332445036642239e-4
allele num: 120080
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.17606G>A
  hgvsp: ENSP00000289893.4:p.Arg5869Gln
  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.21956G>A
  hgvsp: ENSP00000362006.3:p.Arg7319Gln
  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.22457G>A
  hgvsp: ENSP00000455274.1:p.Arg7486Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1420G>A
  hgvsp: ENSP00000353231.4:p.Arg474Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13092G>A
  hgvsp: ENSP00000362016.2:p.Arg4365Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16082G>A
  hgvsp: ENSP00000439537.1:p.Arg5361Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.895G>A
  hgvsp: ENSP00000407776.1:p.Arg299Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16082G>A
  hgvsp: ENSP00000354573.2:p.Arg5361Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1155G>A
  hgvsp: ENSP00000391512.1:p.Arg386Gln
  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.22568G>A
  hgvsp: ENSP00000455823.1:p.Arg7523Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15692G>A
  hgvsp: ENSP00000444364.1:p.Arg5231Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1446G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16082G>A
  hgvsp: ENSP00000313438.7:p.Arg5361Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1285G>A
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43152
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg5361Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

1-39951256-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951256
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951256
    reference: chr 1
allele count: 1
allele frequency: 8.320990530712775e-6
allele num: 120178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13093A>T
  hgvsp: ENST00000372925.2:c.13093A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15693A>T
  hgvsp: ENST00000539005.1:c.15693A>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.17607A>T
  hgvsp: ENST00000289893.4:c.17607A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1156A>T
  hgvsp: ENST00000446276.1:c.1156A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1286A>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.22569A>T
  hgvsp: ENST00000567887.1:c.22569A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.896A>T
  hgvsp: ENST00000442046.1:c.896A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1447A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16083A>T
  hgvsp: ENST00000361689.2:c.16083A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16083A>T
  hgvsp: ENST00000317713.7:c.16083A>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.21957A>T
  hgvsp: ENST00000372915.3:c.21957A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1421A>T
  hgvsp: ENST00000360115.4:c.1421A>T(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.22458A>T
  hgvsp: ENST00000564288.1:c.22458A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16083A>T
  hgvsp: ENST00000545844.1:c.16083A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg5361Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

1-39951259-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951259
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951259
    reference: chr 1
allele count: 1
allele frequency: 8.309512730173502e-6
allele num: 120344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.21960C>T
  hgvsp: ENST00000372915.3:c.21960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1159C>T
  hgvsp: ENST00000446276.1:c.1159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16086C>T
  hgvsp: ENST00000317713.7:c.16086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1450C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15696C>T
  hgvsp: ENST00000539005.1:c.15696C>T(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.22461C>T
  hgvsp: ENST00000564288.1:c.22461C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13096C>T
  hgvsp: ENST00000372925.2:c.13096C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16086C>T
  hgvsp: ENST00000361689.2:c.16086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1424C>T
  hgvsp: ENST00000360115.4:c.1424C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.899C>T
  hgvsp: ENST00000442046.1:c.899C>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.17610C>T
  hgvsp: ENST00000289893.4:c.17610C>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.22572C>T
  hgvsp: ENST00000567887.1:c.22572C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1289C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16086C>T
  hgvsp: ENST00000545844.1:c.16086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala5362Ala
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

1-39951262-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951262
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951262
    reference: chr 1
allele count: 8
allele frequency: 6.633169162396564e-5
allele num: 120606
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1427G>T
  hgvsp: ENST00000360115.4:c.1427G>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.22575G>T
  hgvsp: ENST00000567887.1:c.22575G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16089G>T
  hgvsp: ENST00000545844.1:c.16089G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15699G>T
  hgvsp: ENST00000539005.1:c.15699G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13099G>T
  hgvsp: ENST00000372925.2:c.13099G>T(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.22464G>T
  hgvsp: ENST00000564288.1:c.22464G>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.21963G>T
  hgvsp: ENST00000372915.3:c.21963G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1453G>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.17613G>T
  hgvsp: ENST00000289893.4:c.17613G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1162G>T
  hgvsp: ENST00000446276.1:c.1162G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.902G>T
  hgvsp: ENST00000442046.1:c.902G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1292G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16089G>T
  hgvsp: ENST00000317713.7:c.16089G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16089G>T
  hgvsp: ENST00000361689.2:c.16089G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly5363Gly
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

1-39951279-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951279
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951279
    reference: chr 1
allele count: 4
allele frequency: 3.301910155024682e-5
allele num: 121142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1444G>A
  hgvsp: ENSP00000353231.4:p.Arg482Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1179G>A
  hgvsp: ENSP00000391512.1:p.Arg394Gln
  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.22481G>A
  hgvsp: ENSP00000455274.1:p.Arg7494Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.919G>A
  hgvsp: ENSP00000407776.1:p.Arg307Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16106G>A
  hgvsp: ENSP00000313438.7:p.Arg5369Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16106G>A
  hgvsp: ENSP00000354573.2:p.Arg5369Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13116G>A
  hgvsp: ENSP00000362016.2:p.Arg4373Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16106G>A
  hgvsp: ENSP00000439537.1:p.Arg5369Gln
  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.22592G>A
  hgvsp: ENSP00000455823.1:p.Arg7531Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1309G>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.17630G>A
  hgvsp: ENSP00000289893.4:p.Arg5877Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15716G>A
  hgvsp: ENSP00000444364.1:p.Arg5239Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1470G>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.21980G>A
  hgvsp: ENSP00000362006.3:p.Arg7327Gln
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg5369Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

1-39951286-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951286
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951286
    reference: chr 1
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1451A>G
  hgvsp: ENST00000360115.4:c.1451A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15723A>G
  hgvsp: ENST00000539005.1:c.15723A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.926A>G
  hgvsp: ENST00000442046.1:c.926A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1186A>G
  hgvsp: ENST00000446276.1:c.1186A>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.21987A>G
  hgvsp: ENST00000372915.3:c.21987A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13123A>G
  hgvsp: ENST00000372925.2:c.13123A>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.22488A>G
  hgvsp: ENST00000564288.1:c.22488A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1316A>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.17637A>G
  hgvsp: ENST00000289893.4:c.17637A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16113A>G
  hgvsp: ENST00000317713.7:c.16113A>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.22599A>G
  hgvsp: ENST00000567887.1:c.22599A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16113A>G
  hgvsp: ENST00000361689.2:c.16113A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1477A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16113A>G
  hgvsp: ENST00000545844.1:c.16113A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly5371Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-39951292-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951292
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951292
    reference: chr 1
allele count: 5
allele frequency: 4.12173970389422e-5
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1483C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.932C>T
  hgvsp: ENST00000442046.1:c.932C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1457C>T
  hgvsp: ENST00000360115.4:c.1457C>T(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.22494C>T
  hgvsp: ENST00000564288.1:c.22494C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13129C>T
  hgvsp: ENST00000372925.2:c.13129C>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.21993C>T
  hgvsp: ENST00000372915.3:c.21993C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16119C>T
  hgvsp: ENST00000545844.1:c.16119C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16119C>T
  hgvsp: ENST00000317713.7:c.16119C>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.17643C>T
  hgvsp: ENST00000289893.4:c.17643C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15729C>T
  hgvsp: ENST00000539005.1:c.15729C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16119C>T
  hgvsp: ENST00000361689.2:c.16119C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1322C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1192C>T
  hgvsp: ENST00000446276.1:c.1192C>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.22605C>T
  hgvsp: ENST00000567887.1:c.22605C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp5373Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

1-39951293-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951293
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951293
    reference: chr 1
allele count: 7
allele frequency: 5.770245317858085e-5
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1193G>A
  hgvsp: ENSP00000391512.1:p.Ala399Thr
  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.22495G>A
  hgvsp: ENSP00000455274.1:p.Ala7499Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.933G>A
  hgvsp: ENSP00000407776.1:p.Ala312Thr
  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.17644G>A
  hgvsp: ENSP00000289893.4:p.Ala5882Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1458G>A
  hgvsp: ENSP00000353231.4:p.Ala487Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13130G>A
  hgvsp: ENSP00000362016.2:p.Ala4378Thr
  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.21994G>A
  hgvsp: ENSP00000362006.3:p.Ala7332Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16120G>A
  hgvsp: ENSP00000439537.1:p.Ala5374Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1323G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16120G>A
  hgvsp: ENSP00000354573.2:p.Ala5374Thr
  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.22606G>A
  hgvsp: ENSP00000455823.1:p.Ala7536Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16120G>A
  hgvsp: ENSP00000313438.7:p.Ala5374Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15730G>A
  hgvsp: ENSP00000444364.1:p.Ala5244Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1484G>A
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala5374Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

1-39951301-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951301
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951301
    reference: chr 1
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13138C>T
  hgvsp: ENST00000372925.2:c.13138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1201C>T
  hgvsp: ENST00000446276.1:c.1201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.941C>T
  hgvsp: ENST00000442046.1:c.941C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15738C>T
  hgvsp: ENST00000539005.1:c.15738C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1331C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16128C>T
  hgvsp: ENST00000361689.2:c.16128C>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.17652C>T
  hgvsp: ENST00000289893.4:c.17652C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16128C>T
  hgvsp: ENST00000317713.7:c.16128C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1466C>T
  hgvsp: ENST00000360115.4:c.1466C>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.22614C>T
  hgvsp: ENST00000567887.1:c.22614C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16128C>T
  hgvsp: ENST00000545844.1:c.16128C>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.22002C>T
  hgvsp: ENST00000372915.3:c.22002C>T(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.22503C>T
  hgvsp: ENST00000564288.1:c.22503C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1492C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp5376Asp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

1-39951304-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951304
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951304
    reference: chr 1
allele count: 298
allele frequency: 2.455909015988133e-3
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1495T>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.22617T>G
  hgvsp: ENSP00000455823.1:p.Phe7539Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15741T>G
  hgvsp: ENSP00000444364.1:p.Phe5247Leu
  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.17655T>G
  hgvsp: ENSP00000289893.4:p.Phe5885Leu
  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.22005T>G
  hgvsp: ENSP00000362006.3:p.Phe7335Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.944T>G
  hgvsp: ENSP00000407776.1:p.Phe315Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13141T>G
  hgvsp: ENSP00000362016.2:p.Phe4381Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16131T>G
  hgvsp: ENSP00000313438.7:p.Phe5377Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1469T>G
  hgvsp: ENSP00000353231.4:p.Phe490Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16131T>G
  hgvsp: ENSP00000354573.2:p.Phe5377Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1204T>G
  hgvsp: ENSP00000391512.1:p.Phe402Leu
  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.22506T>G
  hgvsp: ENSP00000455274.1:p.Phe7502Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16131T>G
  hgvsp: ENSP00000439537.1:p.Phe5377Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1334T>G
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 43055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 10518
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe5377Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

1-39951309-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951309
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951309
    reference: chr 1
allele count: 2
allele frequency: 1.648125257519571e-5
allele num: 121350
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.22010T>G
  hgvsp: ENSP00000362006.3:p.Leu7337Arg
  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.22511T>G
  hgvsp: ENSP00000455274.1:p.Leu7504Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16136T>G
  hgvsp: ENSP00000439537.1:p.Leu5379Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1209T>G
  hgvsp: ENSP00000391512.1:p.Leu404Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16136T>G
  hgvsp: ENSP00000313438.7:p.Leu5379Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15746T>G
  hgvsp: ENSP00000444364.1:p.Leu5249Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13146T>G
  hgvsp: ENSP00000362016.2:p.Leu4383Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16136T>G
  hgvsp: ENSP00000354573.2:p.Leu5379Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1474T>G
  hgvsp: ENSP00000353231.4:p.Leu492Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.949T>G
  hgvsp: ENSP00000407776.1:p.Leu317Arg
  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.22622T>G
  hgvsp: ENSP00000455823.1:p.Leu7541Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1500T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1339T>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.17660T>G
  hgvsp: ENSP00000289893.4:p.Leu5887Arg
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu5379Arg
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-39951318-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951318
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951318
    reference: chr 1
allele count: 3
allele frequency: 2.471780505891077e-5
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1218C>T
  hgvsp: ENSP00000391512.1:p.Thr407Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15755C>T
  hgvsp: ENSP00000444364.1:p.Thr5252Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16145C>T
  hgvsp: ENSP00000354573.2:p.Thr5382Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16145C>T
  hgvsp: ENSP00000439537.1:p.Thr5382Met
  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.17669C>T
  hgvsp: ENSP00000289893.4:p.Thr5890Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16145C>T
  hgvsp: ENSP00000313438.7:p.Thr5382Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1483C>T
  hgvsp: ENSP00000353231.4:p.Thr495Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.958C>T
  hgvsp: ENSP00000407776.1:p.Thr320Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13155C>T
  hgvsp: ENSP00000362016.2:p.Thr4386Met
  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.22520C>T
  hgvsp: ENSP00000455274.1:p.Thr7507Met
  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.22019C>T
  hgvsp: ENSP00000362006.3:p.Thr7340Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1348C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1509C>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.22631C>T
  hgvsp: ENSP00000455823.1:p.Thr7544Met
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr5382Met
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

1-39951319-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951319
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951319
    reference: chr 1
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13156G>A
  hgvsp: ENST00000372925.2:c.13156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1484G>A
  hgvsp: ENST00000360115.4:c.1484G>A(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.22521G>A
  hgvsp: ENST00000564288.1:c.22521G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1219G>A
  hgvsp: ENST00000446276.1:c.1219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16146G>A
  hgvsp: ENST00000545844.1:c.16146G>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.17670G>A
  hgvsp: ENST00000289893.4:c.17670G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16146G>A
  hgvsp: ENST00000361689.2:c.16146G>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.22020G>A
  hgvsp: ENST00000372915.3:c.22020G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16146G>A
  hgvsp: ENST00000317713.7:c.16146G>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.22632G>A
  hgvsp: ENST00000567887.1:c.22632G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.959G>A
  hgvsp: ENST00000442046.1:c.959G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1349G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15756G>A
  hgvsp: ENST00000539005.1:c.15756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1510G>A
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr5382Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

1-39951319-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951319
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951319
    reference: chr 1
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
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.17670G>T
  hgvsp: ENST00000289893.4:c.17670G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1510G>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.22521G>T
  hgvsp: ENST00000564288.1:c.22521G>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.22632G>T
  hgvsp: ENST00000567887.1:c.22632G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1219G>T
  hgvsp: ENST00000446276.1:c.1219G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16146G>T
  hgvsp: ENST00000361689.2:c.16146G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1484G>T
  hgvsp: ENST00000360115.4:c.1484G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1349G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.959G>T
  hgvsp: ENST00000442046.1:c.959G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15756G>T
  hgvsp: ENST00000539005.1:c.15756G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13156G>T
  hgvsp: ENST00000372925.2:c.13156G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16146G>T
  hgvsp: ENST00000545844.1:c.16146G>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.22020G>T
  hgvsp: ENST00000372915.3:c.22020G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16146G>T
  hgvsp: ENST00000317713.7:c.16146G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr5382Thr
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

1-39951322-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951322
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951322
    reference: chr 1
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
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.17673G>A
  hgvsp: ENST00000289893.4:c.17673G>A(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.22524G>A
  hgvsp: ENST00000564288.1:c.22524G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1513G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16149G>A
  hgvsp: ENST00000317713.7:c.16149G>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.22023G>A
  hgvsp: ENST00000372915.3:c.22023G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15759G>A
  hgvsp: ENST00000539005.1:c.15759G>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.22635G>A
  hgvsp: ENST00000567887.1:c.22635G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1352G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1222G>A
  hgvsp: ENST00000446276.1:c.1222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16149G>A
  hgvsp: ENST00000361689.2:c.16149G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.962G>A
  hgvsp: ENST00000442046.1:c.962G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13159G>A
  hgvsp: ENST00000372925.2:c.13159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1487G>A
  hgvsp: ENST00000360115.4:c.1487G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16149G>A
  hgvsp: ENST00000545844.1:c.16149G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10574
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln5383Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

1-39951323-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951323
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951323
    reference: chr 1
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16150T>G
  hgvsp: ENSP00000354573.2:p.Ser5384Ala
  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.22024T>G
  hgvsp: ENSP00000362006.3:p.Ser7342Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1488T>G
  hgvsp: ENSP00000353231.4:p.Ser497Ala
  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.17674T>G
  hgvsp: ENSP00000289893.4:p.Ser5892Ala
  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.22636T>G
  hgvsp: ENSP00000455823.1:p.Ser7546Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1514T>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.22525T>G
  hgvsp: ENSP00000455274.1:p.Ser7509Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15760T>G
  hgvsp: ENSP00000444364.1:p.Ser5254Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1223T>G
  hgvsp: ENSP00000391512.1:p.Ser409Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16150T>G
  hgvsp: ENSP00000313438.7:p.Ser5384Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.963T>G
  hgvsp: ENSP00000407776.1:p.Ser322Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13160T>G
  hgvsp: ENSP00000362016.2:p.Ser4388Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1353T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16150T>G
  hgvsp: ENSP00000439537.1:p.Ser5384Ala
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser5384Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-39951330-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951330
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951330
    reference: chr 1
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16157G>A
  hgvsp: ENSP00000439537.1:p.Cys5386Tyr
  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.22031G>A
  hgvsp: ENSP00000362006.3:p.Cys7344Tyr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13167G>A
  hgvsp: ENSP00000362016.2:p.Cys4390Tyr
  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.17681G>A
  hgvsp: ENSP00000289893.4:p.Cys5894Tyr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16157G>A
  hgvsp: ENSP00000313438.7:p.Cys5386Tyr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1360G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16157G>A
  hgvsp: ENSP00000354573.2:p.Cys5386Tyr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1521G>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.22532G>A
  hgvsp: ENSP00000455274.1:p.Cys7511Tyr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1495G>A
  hgvsp: ENSP00000353231.4:p.Cys499Tyr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1230G>A
  hgvsp: ENSP00000391512.1:p.Cys411Tyr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.970G>A
  hgvsp: ENSP00000407776.1:p.Cys324Tyr
  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.22643G>A
  hgvsp: ENSP00000455823.1:p.Cys7548Tyr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15767G>A
  hgvsp: ENSP00000444364.1:p.Cys5256Tyr
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys5386Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum

1-39951334-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951334
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951334
    reference: chr 1
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.22536C>T
  hgvsp: ENST00000564288.1:c.22536C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16161C>T
  hgvsp: ENST00000361689.2:c.16161C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16161C>T
  hgvsp: ENST00000545844.1:c.16161C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13171C>T
  hgvsp: ENST00000372925.2:c.13171C>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.17685C>T
  hgvsp: ENST00000289893.4:c.17685C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16161C>T
  hgvsp: ENST00000317713.7:c.16161C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15771C>T
  hgvsp: ENST00000539005.1:c.15771C>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.22035C>T
  hgvsp: ENST00000372915.3:c.22035C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1525C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1499C>T
  hgvsp: ENST00000360115.4:c.1499C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1364C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.974C>T
  hgvsp: ENST00000442046.1:c.974C>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.22647C>T
  hgvsp: ENST00000567887.1:c.22647C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1234C>T
  hgvsp: ENST00000446276.1:c.1234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43041
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser5387Ser
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

1-39951353-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951353
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951353
    reference: chr 1
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.22054G>A
  hgvsp: ENSP00000362006.3:p.Ala7352Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.993G>A
  hgvsp: ENSP00000407776.1:p.Ala332Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1544G>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.22666G>A
  hgvsp: ENSP00000455823.1:p.Ala7556Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16180G>A
  hgvsp: ENSP00000354573.2:p.Ala5394Thr
  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.22555G>A
  hgvsp: ENSP00000455274.1:p.Ala7519Thr
  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.17704G>A
  hgvsp: ENSP00000289893.4:p.Ala5902Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1253G>A
  hgvsp: ENSP00000391512.1:p.Ala419Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13190G>A
  hgvsp: ENSP00000362016.2:p.Ala4398Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15790G>A
  hgvsp: ENSP00000444364.1:p.Ala5264Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1518G>A
  hgvsp: ENSP00000353231.4:p.Ala507Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1383G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16180G>A
  hgvsp: ENSP00000439537.1:p.Ala5394Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16180G>A
  hgvsp: ENSP00000313438.7:p.Ala5394Thr
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala5394Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

1-39951353-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951353
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951353
    reference: chr 1
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
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.22666G>T
  hgvsp: ENSP00000455823.1:p.Ala7556Ser
  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.22555G>T
  hgvsp: ENSP00000455274.1:p.Ala7519Ser
  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.17704G>T
  hgvsp: ENSP00000289893.4:p.Ala5902Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1253G>T
  hgvsp: ENSP00000391512.1:p.Ala419Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16180G>T
  hgvsp: ENSP00000313438.7:p.Ala5394Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1544G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.993G>T
  hgvsp: ENSP00000407776.1:p.Ala332Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1383G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15790G>T
  hgvsp: ENSP00000444364.1:p.Ala5264Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16180G>T
  hgvsp: ENSP00000354573.2:p.Ala5394Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1518G>T
  hgvsp: ENSP00000353231.4:p.Ala507Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16180G>T
  hgvsp: ENSP00000439537.1:p.Ala5394Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13190G>T
  hgvsp: ENSP00000362016.2:p.Ala4398Ser
  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.22054G>T
  hgvsp: ENSP00000362006.3:p.Ala7352Ser
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala5394Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

1-39951355-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951355
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951355
    reference: chr 1
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15792T>A
  hgvsp: ENST00000539005.1:c.15792T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1546T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16182T>A
  hgvsp: ENST00000361689.2:c.16182T>A(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.22557T>A
  hgvsp: ENST00000564288.1:c.22557T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1520T>A
  hgvsp: ENST00000360115.4:c.1520T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1385T>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.17706T>A
  hgvsp: ENST00000289893.4:c.17706T>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.22668T>A
  hgvsp: ENST00000567887.1:c.22668T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.995T>A
  hgvsp: ENST00000442046.1:c.995T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1255T>A
  hgvsp: ENST00000446276.1:c.1255T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13192T>A
  hgvsp: ENST00000372925.2:c.13192T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16182T>A
  hgvsp: ENST00000317713.7:c.16182T>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.22056T>A
  hgvsp: ENST00000372915.3:c.22056T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16182T>A
  hgvsp: ENST00000545844.1:c.16182T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala5394Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ

1-39951356-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951356
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951356
    reference: chr 1
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15793G>A
  hgvsp: ENSP00000444364.1:p.Ala5265Thr
  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.22669G>A
  hgvsp: ENSP00000455823.1:p.Ala7557Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1521G>A
  hgvsp: ENSP00000353231.4:p.Ala508Thr
  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.17707G>A
  hgvsp: ENSP00000289893.4:p.Ala5903Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16183G>A
  hgvsp: ENSP00000439537.1:p.Ala5395Thr
  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.22558G>A
  hgvsp: ENSP00000455274.1:p.Ala7520Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.996G>A
  hgvsp: ENSP00000407776.1:p.Ala333Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1256G>A
  hgvsp: ENSP00000391512.1:p.Ala420Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1386G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1547G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16183G>A
  hgvsp: ENSP00000354573.2:p.Ala5395Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16183G>A
  hgvsp: ENSP00000313438.7:p.Ala5395Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13193G>A
  hgvsp: ENSP00000362016.2:p.Ala4399Thr
  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.22057G>A
  hgvsp: ENSP00000362006.3:p.Ala7353Thr
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala5395Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

1-39951358-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951358
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951358
    reference: chr 1
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.22671A>T
  hgvsp: ENST00000567887.1:c.22671A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1258A>T
  hgvsp: ENST00000446276.1:c.1258A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.998A>T
  hgvsp: ENST00000442046.1:c.998A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16185A>T
  hgvsp: ENST00000361689.2:c.16185A>T(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.22560A>T
  hgvsp: ENST00000564288.1:c.22560A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1523A>T
  hgvsp: ENST00000360115.4:c.1523A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1388A>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.17709A>T
  hgvsp: ENST00000289893.4:c.17709A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15795A>T
  hgvsp: ENST00000539005.1:c.15795A>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.22059A>T
  hgvsp: ENST00000372915.3:c.22059A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13195A>T
  hgvsp: ENST00000372925.2:c.13195A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16185A>T
  hgvsp: ENST00000545844.1:c.16185A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1549A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16185A>T
  hgvsp: ENST00000317713.7:c.16185A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala5395Ala
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

1-39951363-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951363
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951363
    reference: chr 1
allele count: 10
allele frequency: 8.241577108195424e-5
allele num: 121336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13200G>C
  hgvsp: ENSP00000362016.2:p.Gly4401Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1393G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1528G>C
  hgvsp: ENSP00000353231.4:p.Gly510Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16190G>C
  hgvsp: ENSP00000439537.1:p.Gly5397Ala
  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.22676G>C
  hgvsp: ENSP00000455823.1:p.Gly7559Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16190G>C
  hgvsp: ENSP00000313438.7:p.Gly5397Ala
  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.17714G>C
  hgvsp: ENSP00000289893.4:p.Gly5905Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1263G>C
  hgvsp: ENSP00000391512.1:p.Gly422Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1554G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16190G>C
  hgvsp: ENSP00000354573.2:p.Gly5397Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.1003G>C
  hgvsp: ENSP00000407776.1:p.Gly335Ala
  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.22565G>C
  hgvsp: ENSP00000455274.1:p.Gly7522Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15800G>C
  hgvsp: ENSP00000444364.1:p.Gly5267Ala
  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.22064G>C
  hgvsp: ENSP00000362006.3:p.Gly7355Ala
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly5397Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-39951376-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951376
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951376
    reference: chr 1
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
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.22077C>A
  hgvsp: ENST00000372915.3:c.22077C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15813C>A
  hgvsp: ENST00000539005.1:c.15813C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.1016C>A
  hgvsp: ENST00000442046.1:c.1016C>A(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.22578C>A
  hgvsp: ENST00000564288.1:c.22578C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16203C>A
  hgvsp: ENST00000545844.1:c.16203C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1541C>A
  hgvsp: ENST00000360115.4:c.1541C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16203C>A
  hgvsp: ENST00000361689.2:c.16203C>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.17727C>A
  hgvsp: ENST00000289893.4:c.17727C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1406C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1567C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1276C>A
  hgvsp: ENST00000446276.1:c.1276C>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.22689C>A
  hgvsp: ENST00000567887.1:c.22689C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16203C>A
  hgvsp: ENST00000317713.7:c.16203C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13213C>A
  hgvsp: ENST00000372925.2:c.13213C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser5401Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

1-39951391-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39951391
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39951391
    reference: chr 1
allele count: 3
allele frequency: 2.475982965237199e-5
allele num: 121164
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.15828C>G
  hgvsp: ENSP00000444364.1:p.Asn5276Lys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000407776
  ensembl transcript: ENST00000442046
  gene symbol: MACF1
  hgvsc: ENST00000442046.1:c.1031C>G
  hgvsp: ENSP00000407776.1:p.Asn344Lys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000391512
  ensembl transcript: ENST00000446276
  gene symbol: MACF1
  hgvsc: ENST00000446276.1:c.1291C>G
  hgvsp: ENSP00000391512.1:p.Asn431Lys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.16218C>G
  hgvsp: ENSP00000354573.2:p.Asn5406Lys
  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.22593C>G
  hgvsp: ENSP00000455274.1:p.Asn7531Lys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000497807
  gene symbol: MACF1
  hgvsc: ENST00000497807.1:n.1421C>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.17742C>G
  hgvsp: ENSP00000289893.4:p.Asn5914Lys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.16218C>G
  hgvsp: ENSP00000439537.1:p.Asn5406Lys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.16218C>G
  hgvsp: ENSP00000313438.7:p.Asn5406Lys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.13228C>G
  hgvsp: ENSP00000362016.2:p.Asn4410Lys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000353231
  ensembl transcript: ENST00000360115
  gene symbol: MACF1
  hgvsc: ENST00000360115.4:c.1556C>G
  hgvsp: ENSP00000353231.4:p.Asn519Lys
  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.22092C>G
  hgvsp: ENSP00000362006.3:p.Asn7364Lys
  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.22704C>G
  hgvsp: ENSP00000455823.1:p.Asn7568Lys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000496360
  gene symbol: MACF1
  hgvsc: ENST00000496360.1:n.1582C>G
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn5406Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

GenotypeDepth
all individuals: 36
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 47568
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6968
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1488
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.732201628269531e-4
allele num: 11546
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.528165187466039e-5
allele num: 66252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9900
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.849e0

MQ
type: SiteQuality
SIO_000300: 5.007e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.627999e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.156e0

QD
type: SiteQuality
SIO_000300: 5.91e0

GenotypeDepth
all individuals: 854
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 550
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46980
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1634
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6837
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1453
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520958812435359e-5
allele num: 65748
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 1.610828e6

VQSLOD
type: SiteQuality
SIO_000300: -9.129e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.432e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.397e0

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.58e1

QD
type: SiteQuality
SIO_000300: 1.366e1

GenotypeDepth
all individuals: 59
bin: 6.75e1
variant carriers: 37

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 7

GenotypeDepth
all individuals: 10073
bin: 3.25e1
variant carriers: 38

GenotypeDepth
all individuals: 26
bin: 7.75e1
variant carriers: 14

GenotypeDepth
all individuals: 29390
bin: 2.75e1
variant carriers: 25

GenotypeQuality
all individuals: 46456
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6761
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 140
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1077
bin: 9.75e1
variant carriers: 574

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1306
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1989
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 178
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 27
allele frequency: 1.639344262295082e-3
allele num: 16470
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.348214285714286e-3
allele num: 896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 9
allele frequency: 1.367781155015197e-3
allele num: 6580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 486
allele frequency: 7.415997802667318e-3
allele num: 65534
num of homozygotes: 3

Latino
type: Population
allele count: 46
allele frequency: 4.011161492849668e-3
allele num: 11468
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 8.252527336496802e-4
allele num: 9694
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.14e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.609419e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

QD
type: SiteQuality
SIO_000300: 1.502e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1

GenotypeDepth
all individuals: 10112
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1078
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 275
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2113
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1317
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6819
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1429
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46819
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.732099196646873e-5
allele num: 11452
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.231e0

MQRankSum
type: SiteQuality
SIO_000300: 2.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.07e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.151e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.09e0

DP
type: SiteQuality
SIO_000300: 1.592643e6

GenotypeDepth
all individuals: 14
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1289
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46246
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6745
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2626
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.084945843981989e-5
allele num: 16434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65124
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 6.318e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.261e0

VQSLOD
type: SiteQuality
SIO_000300: -3.439e-1

QD
type: SiteQuality
SIO_000300: 1.544e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.125e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.12e-1

DP
type: SiteQuality
SIO_000300: 1.582933e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15390
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 12
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1259
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4134
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6592
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44350
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1379
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11218
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9362
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.562255897516013e-5
allele num: 64010
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.31e0

MQRankSum
type: SiteQuality
SIO_000300: 2.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.548767e6

QD
type: SiteQuality
SIO_000300: 1.756e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.718e0

GenotypeDepth
all individuals: 5813
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7638
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38568
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5731
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8897
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 92
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.643385373870173e-5
allele num: 60850
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15940
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8836
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.817e0

DP
type: SiteQuality
SIO_000300: 1.429004e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e0

VQSLOD
type: SiteQuality
SIO_000300: 6.08e-1

QD
type: SiteQuality
SIO_000300: 9.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1058
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.665112561609165e-5
allele num: 60056
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7582
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.396554e6

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

ReadPosRankSum
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SIO_000300: 3.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.027e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 32

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
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variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 27
allele frequency: 3.199810381607016e-3
allele num: 8438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6284
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.425083526085839e-5
allele num: 15564
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.025220422390814e-4
allele num: 9754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.145974132903358e-5
allele num: 58298
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.319723e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e-1

QD
type: SiteQuality
SIO_000300: 1.567e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.78e0

GenotypeDepth
all individuals: 12
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 2040
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variant carriers: 0

GenotypeDepth
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 555
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variant carriers: 0

GenotypeQuality
all individuals: 881
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variant carriers: 0

GenotypeQuality
all individuals: 114
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variant carriers: 0

GenotypeQuality
all individuals: 149
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variant carriers: 0

GenotypeQuality
all individuals: 1899
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variant carriers: 0

GenotypeQuality
all individuals: 1924
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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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bin: 4.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 561
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variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7156
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.755001755001755e-5
allele num: 56980
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9436
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.567e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

MQ
type: SiteQuality
SIO_000300: 5.911e1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

VQSLOD
type: SiteQuality
SIO_000300: -4.501e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

DP
type: SiteQuality
SIO_000300: 1.251519e6

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
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variant carriers: 0

GenotypeDepth
all individuals: 34
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variant carriers: 0

GenotypeDepth
all individuals: 35
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variant carriers: 0

GenotypeDepth
all individuals: 55
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GenotypeQuality
all individuals: 283
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variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 476
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GenotypeQuality
all individuals: 1802
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.195600191296031e-4
allele num: 8364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14544
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.642007926023778e-4
allele num: 7570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5880
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.97924e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.199999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.84e0

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

QD
type: SiteQuality
SIO_000300: 9.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.46e-1

GenotypeDepth
all individuals: 24368
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
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variant carriers: 0

GenotypeDepth
all individuals: 12
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variant carriers: 0

GenotypeDepth
all individuals: 14
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variant carriers: 0

GenotypeDepth
all individuals: 405
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variant carriers: 0

GenotypeQuality
all individuals: 12308
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
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variant carriers: 0

GenotypeQuality
all individuals: 3663
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GenotypeQuality
all individuals: 1526
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GenotypeQuality
all individuals: 360
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GenotypeQuality
all individuals: 323
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GenotypeQuality
all individuals: 65
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GenotypeQuality
all individuals: 120
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
all individuals: 370
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GenotypeQuality
all individuals: 250
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.411831144995059e-4
allele num: 14166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5748
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49568
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.026e0

QD
type: SiteQuality
SIO_000300: 9.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.413e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.878e1

DP
type: SiteQuality
SIO_000300: 9.07001e5

VQSLOD
type: SiteQuality
SIO_000300: -1.925e0

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 10
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variant carriers: 0

GenotypeDepth
all individuals: 34
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variant carriers: 0

GenotypeDepth
all individuals: 8
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variant carriers: 0

GenotypeDepth
all individuals: 9
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GenotypeQuality
all individuals: 5383
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GenotypeQuality
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GenotypeQuality
all individuals: 6162
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GenotypeQuality
all individuals: 171
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GenotypeQuality
all individuals: 275
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GenotypeQuality
all individuals: 4394
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 1185
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 2797
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GenotypeQuality
all individuals: 627
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GenotypeQuality
all individuals: 9935
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GenotypeQuality
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GenotypeQuality
all individuals: 935
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GenotypeQuality
all individuals: 197
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GenotypeQuality
all individuals: 317
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GenotypeQuality
all individuals: 119
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GenotypeQuality
all individuals: 509
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variant carriers: 61

GenotypeQuality
all individuals: 63
bin: 8.75e1
variant carriers: 1

Latino
type: Population
allele count: 2
allele frequency: 2.621231979030144e-4
allele num: 7630
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.238485447866629e-4
allele num: 7078
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 48
allele frequency: 9.878982464806125e-4
allele num: 48588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14018
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.545e1

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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bin: 6.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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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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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 451
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variant carriers: 4

GenotypeQuality
all individuals: 271
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4498
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6148
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.876570010854396e-4
allele num: 12898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5306
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.7095e5

VQSLOD
type: SiteQuality
SIO_000300: 4.68e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.77e-1

QD
type: SiteQuality
SIO_000300: 1.389e1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.48e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-1

GenotypeDepth
all individuals: 14
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 1.75e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1999
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.293946024799416e-5
allele num: 41130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5962
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5040
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.133e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.51e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.11e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.58072e5

GenotypeDepth
all individuals: 26
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variant carriers: 1

GenotypeDepth
all individuals: 109
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variant carriers: 8

GenotypeDepth
all individuals: 35
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variant carriers: 4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 13
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variant carriers: 0

GenotypeQuality
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variant carriers: 15

GenotypeQuality
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variant carriers: 34

GenotypeQuality
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bin: 8.75e1
variant carriers: 90

GenotypeQuality
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variant carriers: 59

GenotypeQuality
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variant carriers: 53

GenotypeQuality
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variant carriers: 40

GenotypeQuality
all individuals: 198
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GenotypeQuality
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variant carriers: 67

GenotypeQuality
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variant carriers: 99

GenotypeQuality
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variant carriers: 46

GenotypeQuality
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variant carriers: 69

GenotypeQuality
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variant carriers: 54

GenotypeQuality
all individuals: 5939
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variant carriers: 30

GenotypeQuality
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variant carriers: 82

GenotypeQuality
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variant carriers: 50

GenotypeQuality
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variant carriers: 76

GenotypeQuality
all individuals: 2090
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variant carriers: 1674

GenotypeQuality
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variant carriers: 32

GenotypeQuality
all individuals: 1610
bin: 4.25e1
variant carriers: 21

GenotypeQuality
all individuals: 2129
bin: 4.75e1
variant carriers: 23

European (Non-Finnish)
type: Population
allele count: 47
allele frequency: 1.197635307308123e-3
allele num: 39244
num of homozygotes: 0

East Asian
type: Population
allele count: 558
allele frequency: 1.175726927939317e-1
allele num: 4746
num of homozygotes: 30

South Asian
type: Population
allele count: 13
allele frequency: 1.086048454469507e-3
allele num: 11970
num of homozygotes: 0

African
type: Population
allele count: 24
allele frequency: 4.225352112676056e-3
allele num: 5680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 23
allele frequency: 4.680504680504681e-3
allele num: 4914
num of homozygotes: 0

Latino
type: Population
allele count: 1094
allele frequency: 2.094982765224052e-1
allele num: 5222
num of homozygotes: 101

Other
type: Population
allele count: 18
allele frequency: 2.8125e-2
allele num: 640
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.411e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.51011e5

QD
type: SiteQuality
SIO_000300: 1.523e1

GenotypeDepth
all individuals: 1
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variant carriers: 0

GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeDepth
all individuals: 11
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variant carriers: 0

GenotypeDepth
all individuals: 0
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 1336
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 184
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GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 582
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variant carriers: 0

GenotypeQuality
all individuals: 4905
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GenotypeQuality
all individuals: 121
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variant carriers: 1

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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GenotypeQuality
all individuals: 1007
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variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1840
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1992
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23286
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.93e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

DP
type: SiteQuality
SIO_000300: 5.55169e5

QD
type: SiteQuality
SIO_000300: 1.088e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeDepth
all individuals: 1
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 3
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variant carriers: 0

GenotypeDepth
all individuals: 27
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variant carriers: 0

GenotypeDepth
all individuals: 98
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variant carriers: 0

GenotypeQuality
all individuals: 121
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variant carriers: 1

GenotypeQuality
all individuals: 402
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variant carriers: 0

GenotypeQuality
all individuals: 1159
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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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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
all individuals: 3212
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GenotypeQuality
all individuals: 1162
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2030
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 8.26e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.87e-2

DP
type: SiteQuality
SIO_000300: 5.63747e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.004e-1

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

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 1
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variant carriers: 0

GenotypeDepth
all individuals: 0
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variant carriers: 0

GenotypeDepth
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 3220
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
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variant carriers: 1

GenotypeQuality
all individuals: 5080
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 125
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GenotypeQuality
all individuals: 337
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GenotypeQuality
all individuals: 49
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GenotypeQuality
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GenotypeQuality
all individuals: 32
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GenotypeQuality
all individuals: 2916
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7518
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4628
num of homozygotes: 0

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

East Asian
type: Population
allele count: 5
allele frequency: 2.092050209205021e-3
allele num: 2390
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.74e-2

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.36e-1

DP
type: SiteQuality
SIO_000300: 5.67576e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

FS
type: SiteQuality
SIO_000300: 4.873e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 0
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variant carriers: 0

GenotypeDepth
all individuals: 11
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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bin: 1.75e1
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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variant carriers: 0

GenotypeQuality
all individuals: 907
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GenotypeQuality
all individuals: 169
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 950
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variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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Other
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African
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South Asian
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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Other
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East Asian
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DP
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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MQ
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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South Asian
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European (Non-Finnish)
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African
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East Asian
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Latino
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InbreedingCoeff
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MQRankSum
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QD
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ReadPosRankSum
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DP
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BaseQRankSum
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VQSLOD
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FS
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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allele num: 29478
num of homozygotes: 0

East Asian
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Latino
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European (Finnish)
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South Asian
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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DP
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FS
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QD
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ReadPosRankSum
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MQ
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Latino
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Other
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African
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South Asian
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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MQ
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BaseQRankSum
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FS
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QD
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VQSLOD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Non-Finnish)
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Latino
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ReadPosRankSum
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DP
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MQ
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FS
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ClippingRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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European (Non-Finnish)
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Latino
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African
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European (Finnish)
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South Asian
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FS
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VQSLOD
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InbreedingCoeff
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QD
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MQ
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ClippingRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 1.24595066035385e-4
allele num: 8026
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African
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Other
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European (Non-Finnish)
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European (Finnish)
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ReadPosRankSum
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VQSLOD
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QD
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ClippingRankSum
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DP
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MQRankSum
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InbreedingCoeff
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FS
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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South Asian
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Latino
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African
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MQ
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InbreedingCoeff
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BaseQRankSum
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DP
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ClippingRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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African
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European (Finnish)
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East Asian
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QD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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BaseQRankSum
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VQSLOD
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 62720
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Latino
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Other
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East Asian
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African
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European (Finnish)
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South Asian
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FS
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MQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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InbreedingCoeff
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QD
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DP
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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European (Finnish)
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African
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Latino
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QD
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BaseQRankSum
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MQRankSum
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FS
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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Other
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African
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European (Non-Finnish)
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East Asian
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South Asian
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MQ
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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FS
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QD
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DP
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ClippingRankSum
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MQRankSum
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65222
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.006441223832528e-4
allele num: 9936
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.392e0

ReadPosRankSum
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SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.359e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.316e1

DP
type: SiteQuality
SIO_000300: 1.401096e6

GenotypeDepth
all individuals: 49
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variant carriers: 19

GenotypeDepth
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GenotypeDepth
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variant carriers: 9

GenotypeDepth
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variant carriers: 8

GenotypeDepth
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variant carriers: 15

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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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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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 109

GenotypeQuality
all individuals: 406
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variant carriers: 0

East Asian
type: Population
allele count: 70
allele frequency: 8.173750583839328e-3
allele num: 8564
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.748251748251748e-4
allele num: 11440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6306
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.83060776177691e-4
allele num: 16388
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.126126126126126e-3
allele num: 888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 34
allele frequency: 5.195122696574275e-4
allele num: 65446
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.409163e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

FS
type: SiteQuality
SIO_000300: 8.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.45e-2

QD
type: SiteQuality
SIO_000300: 1.37e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.76e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
all individuals: 5
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1821
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GenotypeQuality
all individuals: 99
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522533495736906e-5
allele num: 65680
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10000
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MQ
type: SiteQuality
SIO_000300: 5.927e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

QD
type: SiteQuality
SIO_000300: 1.367e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.72e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.413448e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeDepth
all individuals: 368
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variant carriers: 0

GenotypeDepth
all individuals: 3
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variant carriers: 0

GenotypeDepth
all individuals: 2
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 2
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GenotypeDepth
all individuals: 315
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GenotypeQuality
all individuals: 1210
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GenotypeQuality
all individuals: 1918
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GenotypeQuality
all individuals: 13
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4
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GenotypeQuality
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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: 400
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GenotypeQuality
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GenotypeQuality
all individuals: 1835
bin: 7.25e1
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GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519941634241245e-5
allele num: 65792
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.0e0

ClippingRankSum
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SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.92e0

MQ
type: SiteQuality
SIO_000300: 5.521e1

QD
type: SiteQuality
SIO_000300: 4.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-2

DP
type: SiteQuality
SIO_000300: 1.415419e6

GenotypeDepth
all individuals: 242
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variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
all individuals: 315
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GenotypeDepth
all individuals: 112
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variant carriers: 1

GenotypeQuality
all individuals: 95
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GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 439
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GenotypeQuality
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GenotypeQuality
all individuals: 143
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GenotypeQuality
all individuals: 1210
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 400
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variant carriers: 6

GenotypeQuality
all individuals: 6359
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.559824902723735e-5
allele num: 65792
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.165229550221394e-4
allele num: 8582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.996805111821086e-4
allele num: 10016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.521e1

ClippingRankSum
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

InbreedingCoeff
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SIO_000300: 1.0e-3

QD
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DP
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 5.92e0

VQSLOD
type: SiteQuality
SIO_000300: 6.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
all individuals: 3
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
type: Population
allele count: 1
allele frequency: 9.984025559105431e-5
allele num: 10016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

Latino
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
allele num: 16424
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
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MQRankSum
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MQ
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QD
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ClippingRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: 1.76e-1

VQSLOD
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SIO_000300: 6.34e-1

DP
type: SiteQuality
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1936
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GenotypeQuality
all individuals: 447
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.930486593843098e-5
allele num: 10070
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

VQSLOD
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InbreedingCoeff
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QD
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BaseQRankSum
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FS
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 5
allele frequency: 7.56956429587913e-5
allele num: 66054
num of homozygotes: 0

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

African
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allele frequency: 9.900990099009902e-5
allele num: 10100
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

East Asian
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allele frequency: 1.04626830969542e-3
allele num: 8602
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Other
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ClippingRankSum
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QD
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VQSLOD
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ReadPosRankSum
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DP
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FS
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InbreedingCoeff
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BaseQRankSum
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MQ
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

Latino
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allele frequency: 8.692628650904033e-5
allele num: 11504
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10114
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

MQRankSum
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SIO_000300: 1.84e0

BaseQRankSum
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QD
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MQ
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ClippingRankSum
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VQSLOD
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FS
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InbreedingCoeff
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SIO_000300: -2.0e-4

ReadPosRankSum
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DP
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GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5109391998066e-5
allele num: 66184
num of homozygotes: 0

MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 6.76e0

VQSLOD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 8
allele frequency: 1.205799897507009e-4
allele num: 66346
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

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

South Asian
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Latino
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African
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European (Non-Finnish)
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allele num: 66680
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European (Finnish)
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Other
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ClippingRankSum
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MQRankSum
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DP
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FS
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InbreedingCoeff
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VQSLOD
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MQ
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QD
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 5.99790073474284e-5
allele num: 66690
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 2.998860433035446e-5
allele num: 66692
num of homozygotes: 0

African
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South Asian
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allele num: 16512
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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Other
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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FS
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InbreedingCoeff
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QD
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DP
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ClippingRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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

East Asian
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Other
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Latino
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European (Non-Finnish)
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allele num: 66706
num of homozygotes: 0

African
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European (Finnish)
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ReadPosRankSum
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MQRankSum
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FS
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DP
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MQ
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ClippingRankSum
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QD
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

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

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

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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Other
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Latino
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African
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East Asian
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European (Finnish)
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DP
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BaseQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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FS
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MQRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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East Asian
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South Asian
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Latino
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African
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FS
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ReadPosRankSum
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MQ
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BaseQRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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African
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European (Finnish)
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European (Non-Finnish)
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DP
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MQRankSum
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ClippingRankSum
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QD
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FS
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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GenotypeQuality
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European (Non-Finnish)
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African
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South Asian
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MQRankSum
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BaseQRankSum
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FS
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VQSLOD
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DP
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MQ
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InbreedingCoeff
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QD
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European (Finnish)
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South Asian
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European (Non-Finnish)
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African
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QD
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BaseQRankSum
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MQ
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FS
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VQSLOD
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DP
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MQRankSum
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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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European (Finnish)
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South Asian
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Latino
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African
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East Asian
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MQRankSum
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ReadPosRankSum
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QD
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DP
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BaseQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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European (Non-Finnish)
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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FS
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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African
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East Asian
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European (Non-Finnish)
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DP
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QD
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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GenotypeQuality
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African
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African
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type: Population
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: 904
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.94e-1

DP
type: SiteQuality
SIO_000300: 1.45147e6

VQSLOD
type: SiteQuality
SIO_000300: 2.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.44e-1

FS
type: SiteQuality
SIO_000300: 2.795e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.747e0

GenotypeDepth
all individuals: 123
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 23
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 398
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5242
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 6629
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 216
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 493
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46845
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2015
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1943
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: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.503422601176894e-5
allele num: 66616
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.02e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

FS
type: SiteQuality
SIO_000300: 5.3e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.285e1