12-82752346-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752346
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752346
    reference: chr 12
allele count: 1
allele frequency: 8.517162081594413e-6
allele num: 117410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.2T>C
  hgvsp: ENSP00000446878.1:p.Met1?
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+112A>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.39T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+112A>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-191A>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.39T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.40T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.2T>C
  hgvsp: ENSP00000248306.3:p.Met1?
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28106
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

12-82752347-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752347
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752347
    reference: chr 12
allele count: 1
allele frequency: 8.491126772522713e-6
allele num: 117770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+111C>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+111C>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.41G>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-192C>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.3G>T
  hgvsp: ENSP00000446878.1:p.Met1?
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.40G>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.40G>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.3G>T
  hgvsp: ENSP00000248306.3:p.Met1?
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6220
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

12-82752348-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752348
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752348
    reference: chr 12
allele count: 1
allele frequency: 8.496609852668785e-6
allele num: 117694
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.4G>C
  hgvsp: ENSP00000446878.1:p.Ala2Pro
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+110C>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-193C>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.41G>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+110C>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.4G>C
  hgvsp: ENSP00000248306.3:p.Ala2Pro
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.41G>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.42G>C
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28149
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala2Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

12-82752349-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752349
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752349
    reference: chr 12
allele count: 1
allele frequency: 8.486947075398038e-6
allele num: 117828
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+109G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.43C>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.42C>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.5C>T
  hgvsp: ENSP00000446878.1:p.Ala2Val
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-194G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+109G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.5C>T
  hgvsp: ENSP00000248306.3:p.Ala2Val
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.42C>T
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2417
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala2Val
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: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

12-82752350-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752350
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752350
    reference: chr 12
allele count: 1
allele frequency: 8.451942256330504e-6
allele num: 118316
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-195C>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+108C>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.6G>T
  hgvsp: ENST00000548200.1:c.6G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.43G>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+108C>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.6G>T
  hgvsp: ENST00000248306.3:c.6G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.43G>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.44G>T
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2464
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6293
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala2Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-82752352-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752352
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752352
    reference: chr 12
allele count: 3
allele frequency: 2.536954977505666e-5
allele num: 118252
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.8C>G
  hgvsp: ENSP00000248306.3:p.Ala3Gly
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.8C>G
  hgvsp: ENSP00000446878.1:p.Ala3Gly
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.45C>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.45C>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+106G>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-197G>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.46C>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+106G>C
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28263
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6338
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6339
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala3Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

12-82752352-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752352
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752352
    reference: chr 12
allele count: 1
allele frequency: 8.456516591685553e-6
allele num: 118252
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-197G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.45C>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.46C>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+106G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.45C>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.8C>T
  hgvsp: ENSP00000446878.1:p.Ala3Val
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.8C>T
  hgvsp: ENSP00000248306.3:p.Ala3Val
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+106G>A
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2313
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala3Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

12-82752354-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752354
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752354
    reference: chr 12
allele count: 2
allele frequency: 1.685431133283894e-5
allele num: 118664
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.10T>C
  hgvsp: ENSP00000248306.3:p.Ser4Pro
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.47T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.10T>C
  hgvsp: ENSP00000446878.1:p.Ser4Pro
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.48T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.47T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-199A>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+104A>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+104A>G
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6293
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6439
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser4Pro
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

12-82752356-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752356
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752356
    reference: chr 12
allele count: 1
allele frequency: 8.4199181583955e-6
allele num: 118766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+102A>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.49T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.12T>C
  hgvsp: ENST00000248306.3:c.12T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-201A>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.50T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+102A>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.12T>C
  hgvsp: ENST00000548200.1:c.12T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.49T>C
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser4Ser
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

12-82752357-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752357
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752357
    reference: chr 12
allele count: 1
allele frequency: 8.415100055539661e-6
allele num: 118834
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.50T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.13T>C
  hgvsp: ENSP00000248306.3:p.Cys5Arg
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.13T>C
  hgvsp: ENSP00000446878.1:p.Cys5Arg
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+101A>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-202A>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.51T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+101A>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.50T>C
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28655
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6509
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44632
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Cys5Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

12-82752358-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752358
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752358
    reference: chr 12
allele count: 1
allele frequency: 8.422754914677492e-6
allele num: 118726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.51G>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-203C>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.51G>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.52G>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.14G>T
  hgvsp: ENSP00000446878.1:p.Cys5Phe
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+100C>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.14G>T
  hgvsp: ENSP00000248306.3:p.Cys5Phe
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+100C>A
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys5Phe
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

12-82752360-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752360
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752360
    reference: chr 12
allele count: 2
allele frequency: 1.680248676804167e-5
allele num: 119030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.16C>T
  hgvsp: ENSP00000446878.1:p.Pro6Ser
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.54C>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.53C>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.16C>T
  hgvsp: ENSP00000248306.3:p.Pro6Ser
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+98G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.53C>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+98G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-205G>A
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6572
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44972
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro6Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

12-82752361-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752361
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752361
    reference: chr 12
allele count: 6
allele frequency: 5.038460246548655e-5
allele num: 119084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+97G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+97G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.54C>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-206G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.17C>T
  hgvsp: ENSP00000446878.1:p.Pro6Leu
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.54C>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.55C>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.17C>T
  hgvsp: ENSP00000248306.3:p.Pro6Leu
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro6Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

12-82752364-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752364
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752364
    reference: chr 12
allele count: 1
allele frequency: 8.386306838194597e-6
allele num: 119242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+94A>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.20T>C
  hgvsp: ENSP00000248306.3:p.Leu7Pro
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.57T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.20T>C
  hgvsp: ENSP00000446878.1:p.Leu7Pro
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-209A>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.57T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+94A>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.58T>C
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6653
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu7Pro
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

12-82752365-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752365
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752365
    reference: chr 12
allele count: 1
allele frequency: 8.385041086701324e-6
allele num: 119260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.58C>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+93G>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.58C>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.59C>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-210G>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.21C>G
  hgvsp: ENST00000248306.3:c.21C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.21C>G
  hgvsp: ENST00000548200.1:c.21C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+93G>C
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20518
  bin: 2.75e1
  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: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu7Leu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-82752366-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752366
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752366
    reference: chr 12
allele count: 1
allele frequency: 8.381246123673667e-6
allele num: 119314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.59C>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-211G>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+92G>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.59C>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.22C>A
  hgvsp: ENSP00000248306.3:p.Pro8Thr
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.22C>A
  hgvsp: ENSP00000446878.1:p.Pro8Thr
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+92G>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.60C>A
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro8Thr
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

12-82752368-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752368
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752368
    reference: chr 12
allele count: 1
allele frequency: 8.375209380234507e-6
allele num: 119400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-213C>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.61G>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.24G>T
  hgvsp: ENST00000548200.1:c.24G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+90C>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.61G>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.24G>T
  hgvsp: ENST00000248306.3:c.24G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.62G>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+90C>A
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20697
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro8Pro
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

12-82752380-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752380
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752380
    reference: chr 12
allele count: 8
allele frequency: 6.651036730350343e-5
allele num: 120282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.36C>T
  hgvsp: ENST00000548200.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.36C>T
  hgvsp: ENST00000248306.3:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+78G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.73C>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-225G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.74C>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+78G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.73C>T
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp12Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

12-82752381-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752381
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752381
    reference: chr 12
allele count: 3
allele frequency: 2.4933925098489e-5
allele num: 120318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.37C>G
  hgvsp: ENSP00000446878.1:p.Leu13Val
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+77G>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.74C>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-226G>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.75C>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.74C>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.37C>G
  hgvsp: ENSP00000248306.3:p.Leu13Val
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+77G>C
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47590
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu13Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

12-82752382-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752382
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752382
    reference: chr 12
allele count: 1
allele frequency: 8.30937463646486e-6
allele num: 120346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.75T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.38T>C
  hgvsp: ENSP00000248306.3:p.Leu13Pro
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.38T>C
  hgvsp: ENSP00000446878.1:p.Leu13Pro
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.75T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.76T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+76A>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-227A>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+76A>G
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47672
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu13Pro
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

12-82752382-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752382
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752382
    reference: chr 12
allele count: 1
allele frequency: 8.30937463646486e-6
allele num: 120346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+76A>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.75T>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.75T>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-227A>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.38T>G
  hgvsp: ENSP00000248306.3:p.Leu13Arg
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.38T>G
  hgvsp: ENSP00000446878.1:p.Leu13Arg
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.76T>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+76A>C
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6864
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu13Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-82752389-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752389
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752389
    reference: chr 12
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.45G>T
  hgvsp: ENST00000548200.1:c.45G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.83G>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.82G>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.45G>T
  hgvsp: ENST00000248306.3:c.45G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+69C>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-234C>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.82G>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+69C>A
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 21537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr15Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

12-82752395-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752395
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752395
    reference: chr 12
allele count: 1
allele frequency: 8.279653579294243e-6
allele num: 120778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+63A>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.89T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+63A>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.88T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.88T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.51T>C
  hgvsp: ENST00000248306.3:c.51T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.51T>C
  hgvsp: ENST00000548200.1:c.51T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-240A>G
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg17Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

12-82752397-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752397
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752397
    reference: chr 12
allele count: 1
allele frequency: 8.278556881964336e-6
allele num: 120794
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+61G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.53C>T
  hgvsp: ENSP00000446878.1:p.Ala18Val
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-242G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.90C>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.53C>T
  hgvsp: ENSP00000248306.3:p.Ala18Val
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+61G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.90C>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.91C>T
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6906
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala18Val
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

12-82752403-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752403
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752403
    reference: chr 12
allele count: 2
allele frequency: 1.654697686732634e-5
allele num: 120868
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+55A>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.96T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-248A>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+55A>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.96T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.59T>C
  hgvsp: ENSP00000248306.3:p.Leu20Ser
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.59T>C
  hgvsp: ENSP00000446878.1:p.Leu20Ser
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.97T>C
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48285
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu20Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

12-82752408-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752408
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752408
    reference: chr 12
allele count: 1
allele frequency: 8.270204108637402e-6
allele num: 120916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.101G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.102G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.101G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+50C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+50C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.64G>A
  hgvsp: ENSP00000248306.3:p.Gly22Arg
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.64G>A
  hgvsp: ENSP00000446878.1:p.Gly22Arg
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-253C>T
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly22Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

12-82752412-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752412
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752412
    reference: chr 12
allele count: 1
allele frequency: 8.267742575567167e-6
allele num: 120952
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.68T>G
  hgvsp: ENSP00000248306.3:p.Leu23Arg
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+46A>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.68T>G
  hgvsp: ENSP00000446878.1:p.Leu23Arg
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.105T>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.106T>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.105T>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-257A>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+46A>C
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48408
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu23Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

12-82752415-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752415
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752415
    reference: chr 12
allele count: 1
allele frequency: 8.265692417053776e-6
allele num: 120982
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.71T>C
  hgvsp: ENSP00000446878.1:p.Leu24Pro
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.108T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.109T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.71T>C
  hgvsp: ENSP00000248306.3:p.Leu24Pro
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-260A>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+43A>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.108T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+43A>G
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu24Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

12-82752416-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752416
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752416
    reference: chr 12
allele count: 11
allele frequency: 9.09090909090909e-5
allele num: 121000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.109G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.72G>A
  hgvsp: ENST00000248306.3:c.72G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+42C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-261C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.72G>A
  hgvsp: ENST00000548200.1:c.72G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.109G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.110G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+42C>T
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48434
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu24Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

12-82752427-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752427
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752427
    reference: chr 12
allele count: 1
allele frequency: 8.261868173631421e-6
allele num: 121038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.120G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-272C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.120G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.121G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.83G>A
  hgvsp: ENSP00000248306.3:p.Arg28Lys
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.83G>A
  hgvsp: ENSP00000446878.1:p.Arg28Lys
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+31C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+31C>T
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg28Lys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

12-82752429-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752429
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752429
    reference: chr 12
allele count: 1
allele frequency: 8.260912665631299e-6
allele num: 121052
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+29C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.85G>A
  hgvsp: ENSP00000248306.3:p.Asp29Asn
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.122G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-274C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.85G>A
  hgvsp: ENSP00000446878.1:p.Asp29Asn
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.122G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+29C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.123G>A
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30166
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48497
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6921
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp29Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

12-82752432-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752432
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752432
    reference: chr 12
allele count: 1
allele frequency: 8.260503229856763e-6
allele num: 121058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.125G>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-277C>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.88G>T
  hgvsp: ENSP00000446878.1:p.Ala30Ser
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+26C>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.125G>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.126G>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.88G>T
  hgvsp: ENSP00000248306.3:p.Ala30Ser
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+26C>A
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6925
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala30Ser
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP

12-82752433-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752433
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752433
    reference: chr 12
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.89C>G
  hgvsp: ENSP00000446878.1:p.Ala30Gly
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.126C>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+25G>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.127C>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.89C>G
  hgvsp: ENSP00000248306.3:p.Ala30Gly
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-278G>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+25G>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.126C>G
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6930
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala30Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

12-82752434-C-CCTGTCCAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752434
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752442
    reference: chr 12
allele count: 1
allele frequency: 8.259684480052863e-6
allele num: 121070
alternate allele: CCTGTCCAT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.128_135dupCTGTCCAT
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.91_98dupCTGTCCAT
  hgvsp: ENSP00000248306.3:p.Ser34CysfsTer32
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.91_98dupCTGTCCAT
  hgvsp: ENSP00000446878.1:p.Ser34CysfsTer32
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.128_135dupCTGTCCAT
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.129_136dupCTGTCCAT
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48505
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6933
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser34CysfsTer32
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

12-82752439-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752439
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752439
    reference: chr 12
allele count: 16
allele frequency: 1.321353065539112e-4
allele num: 121088
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.132C>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.133C>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+19G>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.132C>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.95C>G
  hgvsp: ENSP00000446878.1:p.Ser32Cys
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-284G>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.95C>G
  hgvsp: ENSP00000248306.3:p.Ser32Cys
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+19G>C
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48508
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser32Cys
num of homozygotes: 1
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

12-82752442-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752442
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752442
    reference: chr 12
allele count: 1
allele frequency: 8.255865792645674e-6
allele num: 121126
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.98T>C
  hgvsp: ENSP00000446878.1:p.Ile33Thr
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-287A>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.136T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+16A>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.98T>C
  hgvsp: ENSP00000248306.3:p.Ile33Thr
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.135T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.135T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+16A>G
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6724
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile33Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

12-82752445-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752445
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752445
    reference: chr 12
allele count: 10
allele frequency: 8.255729476256522e-5
allele num: 121128
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.139C>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.101C>G
  hgvsp: ENSP00000446878.1:p.Ser34Cys
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.101C>G
  hgvsp: ENSP00000248306.3:p.Ser34Cys
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-290G>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+13G>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.138C>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.138C>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+13G>C
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48533
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser34Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-82752451-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752451
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752451
    reference: chr 12
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.107C>T
  hgvsp: ENSP00000248306.3:p.Ala36Val
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.145C>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+7G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-296G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+7G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.107C>T
  hgvsp: ENSP00000446878.1:p.Ala36Val
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.144C>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.144C>T
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6933
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48527
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala36Val
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

12-82752452-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752452
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752452
    reference: chr 12
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+6T>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.108A>T
  hgvsp: ENST00000248306.3:c.108A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.146A>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-297T>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.145A>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+6T>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.145A>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.108A>T
  hgvsp: ENST00000548200.1:c.108A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48517
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.25e1
  variant carriers: 0
hgvs: n.108+6T>A
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

12-82752455-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752455
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752456
    reference: chr 12
allele count: 6
allele frequency: 4.954828480354105e-5
allele num: 121094
alternate allele: TA
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-301dupT
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.149dupA
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.149dupA
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+2dupT
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+2dupT
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.112dupA
  hgvsp: ENSP00000248306.3:p.Thr38AsnfsTer53
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.150dupA
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.112dupA
  hgvsp: ENSP00000446878.1:p.Thr38AsnfsTer53
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6725
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr38AsnfsTer53
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS

12-82752457-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752457
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752457
    reference: chr 12
allele count: 258
allele frequency: 2.130611435933009e-3
allele num: 121092
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-302G>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.113C>G
  hgvsp: ENSP00000446878.1:p.Thr38Ser
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.108+1G>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.150C>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.127+1G>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.151C>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.113C>G
  hgvsp: ENSP00000248306.3:p.Thr38Ser
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.150C>G
  variant of: http://identifiers.org/hgnc/26228
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 21683
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 30007
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 9.75e1
  variant carriers: 255
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
hgvs: n.108+1G>C
num of homozygotes: 3
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP

12-82752464-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752464
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752464
    reference: chr 12
allele count: 1
allele frequency: 8.259138737012504e-6
allele num: 121078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.120T>A
  hgvsp: ENSP00000446878.1:p.Asp40Glu
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.121A>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.120T>A
  hgvsp: ENSP00000248306.3:p.Asp40Glu
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.158T>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-309A>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.102A>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.157T>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.157T>A
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp40Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

12-82752467-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752467
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752467
    reference: chr 12
allele count: 2
allele frequency: 1.652018766933192e-5
allele num: 121064
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.123C>G
  hgvsp: ENSP00000446878.1:p.Phe41Leu
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.123C>G
  hgvsp: ENSP00000248306.3:p.Phe41Leu
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.160C>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.161C>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-312G>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.99G>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.160C>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.118G>C
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21776
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Phe41Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

12-82752469-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752469
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752469
    reference: chr 12
allele count: 1
allele frequency: 8.261595148791329e-6
allele num: 121042
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.163A>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.116T>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.162A>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.125A>G
  hgvsp: ENSP00000446878.1:p.Tyr42Cys
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.162A>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.97T>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.125A>G
  hgvsp: ENSP00000248306.3:p.Tyr42Cys
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-314T>C
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48462
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr42Cys
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

12-82752474-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752474
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752474
    reference: chr 12
allele count: 1
allele frequency: 8.264872638312644e-6
allele num: 120994
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.167G>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.111C>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.130G>C
  hgvsp: ENSP00000446878.1:p.Glu44Gln
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.130G>C
  hgvsp: ENSP00000248306.3:p.Glu44Gln
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.167G>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.92C>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.168G>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-319C>G
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  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: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu44Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

12-82752479-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752479
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752479
    reference: chr 12
allele count: 1
allele frequency: 8.267059076404159e-6
allele num: 120962
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.106G>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.172C>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.87G>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.135C>G
  hgvsp: ENST00000248306.3:c.135C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.135C>G
  hgvsp: ENST00000548200.1:c.135C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.173C>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-324G>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.172C>G
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser45Ser
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

12-82752480-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752480
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752480
    reference: chr 12
allele count: 1
allele frequency: 8.267605866693123e-6
allele num: 120954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.86C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.173G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.173G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.136G>A
  hgvsp: ENSP00000446878.1:p.Val46Met
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-325C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.174G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.105C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.136G>A
  hgvsp: ENSP00000248306.3:p.Val46Met
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val46Met
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-82752489-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752489
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752489
    reference: chr 12
allele count: 2
allele frequency: 1.654287084980728e-5
allele num: 120898
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.77C>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.96C>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-334C>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.182G>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.182G>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.145G>T
  hgvsp: ENSP00000446878.1:p.Glu49Ter
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.145G>T
  hgvsp: ENSP00000248306.3:p.Glu49Ter
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.183G>T
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu49Ter
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP

12-82752490-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752490
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752490
    reference: chr 12
allele count: 2
allele frequency: 1.654314452091054e-5
allele num: 120896
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-335T>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.146A>T
  hgvsp: ENSP00000446878.1:p.Glu49Val
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.95T>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.183A>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.184A>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.146A>T
  hgvsp: ENSP00000248306.3:p.Glu49Val
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.76T>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.183A>T
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
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: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu49Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

12-82752491-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752491
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752491
    reference: chr 12
allele count: 4
allele frequency: 3.308738378056447e-5
allele num: 120892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.184G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.147G>A
  hgvsp: ENST00000548200.1:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.147G>A
  hgvsp: ENST00000248306.3:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.185G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-336C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.184G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.75C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.94C>T
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu49Glu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

12-82752492-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752492
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752492
    reference: chr 12
allele count: 1
allele frequency: 8.272530236098013e-6
allele num: 120882
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-337G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.186C>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.148C>T
  hgvsp: ENST00000548200.1:c.148C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.93G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.74G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.148C>T
  hgvsp: ENST00000248306.3:c.148C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.185C>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.185C>T
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu50Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ

12-82752495-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752495
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752495
    reference: chr 12
allele count: 1
allele frequency: 8.274309922552459e-6
allele num: 120856
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.189G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.151G>A
  hgvsp: ENSP00000248306.3:p.Val51Ile
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.151G>A
  hgvsp: ENSP00000446878.1:p.Val51Ile
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.90C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.188G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.71C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.188G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-340C>T
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6872
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val51Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

12-82752497-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752497
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752497
    reference: chr 12
allele count: 2
allele frequency: 1.655355073663301e-5
allele num: 120820
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-342G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.191C>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.153C>T
  hgvsp: ENST00000248306.3:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.153C>T
  hgvsp: ENST00000548200.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.69G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.190C>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.190C>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.88G>A
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48178
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val51Val
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-82752500-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752500
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752500
    reference: chr 12
allele count: 1
allele frequency: 8.277323444690924e-6
allele num: 120812
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.193C>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.66G>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-345G>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.156C>A
  hgvsp: ENSP00000248306.3:p.Asp52Glu
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.193C>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.156C>A
  hgvsp: ENSP00000446878.1:p.Asp52Glu
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.85G>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.194C>A
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29757
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6863
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp52Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

12-82752500-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752500
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752501
    reference: chr 12
allele count: 1
allele frequency: 8.277323444690924e-6
allele num: 120812
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.195dupT
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-346dupA
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.65dupA
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.84dupA
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.158dupT
  hgvsp: ENSP00000446878.1:p.Leu53PhefsTer38
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.196dupT
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.158dupT
  hgvsp: ENSP00000248306.3:p.Leu53PhefsTer38
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.195dupT
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu53PhefsTer38
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

12-82752503-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752503
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752503
    reference: chr 12
allele count: 2
allele frequency: 1.655848456749238e-5
allele num: 120784
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.159G>C
  hgvsp: ENSP00000248306.3:p.Leu53Phe
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.196G>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.82C>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-348C>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.197G>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.159G>C
  hgvsp: ENSP00000446878.1:p.Leu53Phe
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.196G>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.63C>G
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Leu53Phe
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

12-82752507-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752507
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752507
    reference: chr 12
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.163C>G
  hgvsp: ENSP00000248306.3:p.Pro55Ala
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.78G>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.201C>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.163C>G
  hgvsp: ENSP00000446878.1:p.Pro55Ala
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.59G>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-352G>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.200C>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.200C>G
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6863
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro55Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

12-82752509-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752509
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752509
    reference: chr 12
allele count: 2
allele frequency: 1.656781205474005e-5
allele num: 120716
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.165G>A
  hgvsp: ENST00000248306.3:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.203G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.202G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.57C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-354C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.76C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.165G>A
  hgvsp: ENST00000548200.1:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.202G>A
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro55Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum

12-82752512-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752512
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752512
    reference: chr 12
allele count: 1
allele frequency: 8.287063893262618e-6
allele num: 120670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.205G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.168G>A
  hgvsp: ENST00000548200.1:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.168G>A
  hgvsp: ENST00000248306.3:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.73C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.206G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-357C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.54C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.205G>A
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47983
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu56Glu
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

12-82752512-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752512
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752512
    reference: chr 12
allele count: 2
allele frequency: 1.657412778652524e-5
allele num: 120670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.168G>C
  hgvsp: ENSP00000446878.1:p.Glu56Asp
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.205G>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-357C>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.54C>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.168G>C
  hgvsp: ENSP00000248306.3:p.Glu56Asp
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.73C>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.206G>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.205G>C
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6848
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu56Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

12-82752516-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752516
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752516
    reference: chr 12
allele count: 1
allele frequency: 8.290911502810618e-6
allele num: 120614
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.50C>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-361C>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.172G>C
  hgvsp: ENSP00000446878.1:p.Val58Leu
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.172G>C
  hgvsp: ENSP00000248306.3:p.Val58Leu
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.210G>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.69C>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.209G>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.209G>C
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val58Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

12-82752517-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752517
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752517
    reference: chr 12
allele count: 1
allele frequency: 8.290774026663129e-6
allele num: 120616
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.211T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.173T>C
  hgvsp: ENSP00000446878.1:p.Val58Ala
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-362A>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.49A>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.210T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.210T>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.68A>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.173T>C
  hgvsp: ENSP00000248306.3:p.Val58Ala
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47914
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val58Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

12-82752518-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752518
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752518
    reference: chr 12
allele count: 1
allele frequency: 8.293799555452344e-6
allele num: 120572
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-363C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.48C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.211G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.174G>A
  hgvsp: ENST00000248306.3:c.174G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.174G>A
  hgvsp: ENST00000548200.1:c.174G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.212G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.67C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.211G>A
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val58Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-82752519-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752519
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752519
    reference: chr 12
allele count: 2
allele frequency: 1.658869977771142e-5
allele num: 120564
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.175C>T
  hgvsp: ENST00000248306.3:c.175C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.175C>T
  hgvsp: ENST00000548200.1:c.175C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.212C>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.212C>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.213C>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-364G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.47G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.66G>A
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 47851
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu59Leu
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: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS

12-82752521-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752521
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752521
    reference: chr 12
allele count: 3
allele frequency: 2.488222413907504e-5
allele num: 120568
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.214G>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.45C>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.215G>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.177G>C
  hgvsp: ENST00000548200.1:c.177G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.214G>C
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.177G>C
  hgvsp: ENST00000248306.3:c.177G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-366C>G
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.64C>G
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29569
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47940
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu59Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

12-82752525-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752525
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752525
    reference: chr 12
allele count: 4
allele frequency: 3.320659482973319e-5
allele num: 120458
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.218G>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.218G>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.41C>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-370C>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.181G>T
  hgvsp: ENSP00000446878.1:p.Ala61Ser
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.60C>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.219G>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.181G>T
  hgvsp: ENSP00000248306.3:p.Ala61Ser
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6716
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47911
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala61Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ

12-82752527-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752527
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752527
    reference: chr 12
allele count: 1
allele frequency: 8.305509875251242e-6
allele num: 120402
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.183G>A
  hgvsp: ENST00000248306.3:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.220G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-372C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.183G>A
  hgvsp: ENST00000548200.1:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.58C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.220G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.221G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.39C>T
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 29530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala61Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

12-82752533-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752533
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752533
    reference: chr 12
allele count: 2
allele frequency: 1.663284654535777e-5
allele num: 120244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.52C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.226G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.189G>A
  hgvsp: ENST00000248306.3:c.189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.189G>A
  hgvsp: ENST00000548200.1:c.189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-378C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.227G>A
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.33C>T
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.226G>A
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47709
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg63Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

12-82752533-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752533
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752533
    reference: chr 12
allele count: 5
allele frequency: 4.158211636339443e-5
allele num: 120244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.226G>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.189G>T
  hgvsp: ENSP00000446878.1:p.Arg63Ser
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.189G>T
  hgvsp: ENSP00000248306.3:p.Arg63Ser
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.226G>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-378C>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.52C>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.227G>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.33C>A
  variant of: http://identifiers.org/hgnc/25005
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg63Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

12-82752534-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752534
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752534
    reference: chr 12
allele count: 1
allele frequency: 8.31766839119658e-6
allele num: 120226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.190A>G
  hgvsp: ENSP00000446878.1:p.Lys64Glu
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.32T>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.228A>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-379T>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.190A>G
  hgvsp: ENSP00000248306.3:p.Lys64Glu
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.227A>G
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.51T>C
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.227A>G
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys64Glu
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-82752538-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 82752538
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 82752538
    reference: chr 12
allele count: 4
allele frequency: 3.331723000549734e-5
allele num: 120058
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000133773
  ensembl protein: ENSP00000256151
  ensembl transcript: ENST00000256151
  gene symbol: CCDC59
  hgvsc: ENST00000256151.7:c.-383G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547357
  gene symbol: METTL25
  hgvsc: ENST00000547357.1:n.231C>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000248306
  ensembl transcript: ENST00000248306
  gene symbol: METTL25
  hgvsc: ENST00000248306.3:c.194C>T
  hgvsp: ENSP00000248306.3:p.Ser65Leu
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000548126
  gene symbol: CCDC59
  hgvsc: ENST00000548126.1:n.28G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133773
  ensembl transcript: ENST00000547758
  gene symbol: CCDC59
  hgvsc: ENST00000547758.1:n.47G>A
  variant of: http://identifiers.org/hgnc/25005
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000547985
  gene symbol: METTL25
  hgvsc: ENST00000547985.1:n.231C>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127720
  ensembl transcript: ENST00000548569
  gene symbol: METTL25
  hgvsc: ENST00000548569.1:n.232C>T
  variant of: http://identifiers.org/hgnc/26228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127720
  ensembl protein: ENSP00000446878
  ensembl transcript: ENST00000548200
  gene symbol: METTL25
  hgvsc: ENST00000548200.1:c.194C>T
  hgvsp: ENSP00000446878.1:p.Ser65Leu
  variant of: http://identifiers.org/hgnc/26228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser65Leu
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 41980
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1319
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6211
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2413
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 8.833922261484099e-5
allele num: 11320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
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: 0
allele frequency: 0.0e0
allele num: 64374
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.279e0

VQSLOD
type: SiteQuality
SIO_000300: -5.264e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-1

DP
type: SiteQuality
SIO_000300: 1.481175e6

MQ
type: SiteQuality
SIO_000300: 5.889e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.153e0

QD
type: SiteQuality
SIO_000300: 1.704e1

GenotypeQuality
all individuals: 886
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1327
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42400
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548371113588505e-5
allele num: 64584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

DP
type: SiteQuality
SIO_000300: 1.48105e6

VQSLOD
type: SiteQuality
SIO_000300: 2.36e-1

FS
type: SiteQuality
SIO_000300: 2.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.901e0

QD
type: SiteQuality
SIO_000300: 1.336e1

MQRankSum
type: SiteQuality
SIO_000300: 7.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQ
type: SiteQuality
SIO_000300: 5.899e1

GenotypeQuality
all individuals: 574
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2386
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 42092
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1312
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.108735491753207e-5
allele num: 16370
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.470000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.139e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.36e-1

FS
type: SiteQuality
SIO_000300: 1.1326e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.899e0

DP
type: SiteQuality
SIO_000300: 1.482493e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

GenotypeQuality
all individuals: 42402
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6202
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54765221159501e-5
allele num: 64614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.327e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.445e0

DP
type: SiteQuality
SIO_000300: 1.482542e6

QD
type: SiteQuality
SIO_000300: 1.262e1

GenotypeQuality
all individuals: 264
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 731
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43276
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1337
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.010917913465427e-4
allele num: 9892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.196e0

FS
type: SiteQuality
SIO_000300: 5.281e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

QD
type: SiteQuality
SIO_000300: 4.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

DP
type: SiteQuality
SIO_000300: 1.48077e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.39e-1

GenotypeQuality
all individuals: 1359
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43313
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2313
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1339
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.625346901017576e-5
allele num: 64860
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6330
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9838
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.476135e6

VQSLOD
type: SiteQuality
SIO_000300: 8.699999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.05e-1

FS
type: SiteQuality
SIO_000300: 2.684e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

QD
type: SiteQuality
SIO_000300: 8.460000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 383
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1339
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6339
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 315
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541782300339192e-5
allele num: 64860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9838
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

QD
type: SiteQuality
SIO_000300: 8.460000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

FS
type: SiteQuality
SIO_000300: 2.684e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

DP
type: SiteQuality
SIO_000300: 1.476135e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.699999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.05e-1

GenotypeQuality
all individuals: 566
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1354
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43799
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 236
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.754078231889142e-4
allele num: 11402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65060
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-2

FS
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 1.477741e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

VQSLOD
type: SiteQuality
SIO_000300: 7.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

QD
type: SiteQuality
SIO_000300: 1.164e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 817
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6478
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1360
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44453
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1391
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9912
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535626535626536e-5
allele num: 65120
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.38e-1

QD
type: SiteQuality
SIO_000300: 1.005e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e0

FS
type: SiteQuality
SIO_000300: 1.513e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

DP
type: SiteQuality
SIO_000300: 1.480182e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.6e-2

GenotypeQuality
all individuals: 184
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535013661621589e-5
allele num: 65146
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9928
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.98e-1

QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.195e0

MQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

DP
type: SiteQuality
SIO_000300: 1.481481e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.26e-1

GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65100
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.00928542591845e-4
allele num: 9908
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.483265e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.58e-1

VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 2.1282e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

QD
type: SiteQuality
SIO_000300: 3.13e1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.064664419246093e-5
allele num: 65260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.709e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.81e-1

DP
type: SiteQuality
SIO_000300: 1.488167e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.64e-1

FS
type: SiteQuality
SIO_000300: 8.763e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.613e1

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

South Asian
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allele count: 6
allele frequency: 3.642544924720738e-4
allele num: 16472
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65270
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.704e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.015e0

FS
type: SiteQuality
SIO_000300: 9.875e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

QD
type: SiteQuality
SIO_000300: 1.336e1

DP
type: SiteQuality
SIO_000300: 1.490338e6

GenotypeQuality
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variant carriers: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529613313754283e-5
allele num: 65376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

FS
type: SiteQuality
SIO_000300: 5.578e0

VQSLOD
type: SiteQuality
SIO_000300: 2.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.33e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

QD
type: SiteQuality
SIO_000300: 1.606e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.49534e6

GenotypeQuality
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variant carriers: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529379377848469e-5
allele num: 65386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.73e-1

FS
type: SiteQuality
SIO_000300: 1.279e0

VQSLOD
type: SiteQuality
SIO_000300: 7.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.377e1

DP
type: SiteQuality
SIO_000300: 1.496743e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e-1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10004
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65414
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East Asian
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allele frequency: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.79e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.498412e6

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele num: 16486
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6470
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African
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -1.146e0

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

Latino
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allele frequency: 2.605523710265763e-4
allele num: 11514
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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East Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.57621674040851e-5
allele num: 65996
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Other
type: Population
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

FS
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VQSLOD
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DP
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MQ
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MQRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.069e0

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

GenotypeQuality
all individuals: 267
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.960015680125441e-4
allele num: 10204
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66006
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.2e0

QD
type: SiteQuality
SIO_000300: 1.154e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

DP
type: SiteQuality
SIO_000300: 1.522167e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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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: 578
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514738404677512e-5
allele num: 66018
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.522756e6

VQSLOD
type: SiteQuality
SIO_000300: -4.92e-2

QD
type: SiteQuality
SIO_000300: 1.11e1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

GenotypeQuality
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bin: 7.5e0
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
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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
all individuals: 47672
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514738404677512e-5
allele num: 66018
num of homozygotes: 0

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

QD
type: SiteQuality
SIO_000300: 1.11e1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

DP
type: SiteQuality
SIO_000300: 1.522756e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.92e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.99e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 25
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511076188461422e-5
allele num: 66178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.9107e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.69e-1

DP
type: SiteQuality
SIO_000300: 1.528444e6

VQSLOD
type: SiteQuality
SIO_000300: -2.667e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.297e1

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

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.689922480620155e-5
allele num: 10320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.87e-1

FS
type: SiteQuality
SIO_000300: 2.988e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 8.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.23e-1

DP
type: SiteQuality
SIO_000300: 1.530336e6

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 276
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 586
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variant carriers: 1

GenotypeQuality
all individuals: 299
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66268
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.839e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.325e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.77e-1

QD
type: SiteQuality
SIO_000300: 8.09e0

VQSLOD
type: SiteQuality
SIO_000300: -2.45e0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-2

DP
type: SiteQuality
SIO_000300: 1.530992e6

GenotypeQuality
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variant carriers: 2

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: 0

GenotypeQuality
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GenotypeQuality
all individuals: 804
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GenotypeQuality
all individuals: 275
bin: 8.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.015954398769491e-5
allele num: 66314
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.532213e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.256e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

FS
type: SiteQuality
SIO_000300: 4.327e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507249871883761e-5
allele num: 66346
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 7.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.62e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.533262e6

VQSLOD
type: SiteQuality
SIO_000300: 5.84e-1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.098e0

GenotypeQuality
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variant carriers: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
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allele frequency: 0.0e0
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Other
type: Population
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allele num: 902
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506704836522525e-5
allele num: 66370
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.981e1

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506296318611797e-5
allele num: 66388
num of homozygotes: 0

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

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

Other
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: 1.29e-1

MQ
type: SiteQuality
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QD
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BaseQRankSum
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SIO_000300: -2.114e0

MQRankSum
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SIO_000300: -6.23e-1

FS
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ReadPosRankSum
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SIO_000300: 3.92e-1

DP
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 11

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66402
num of homozygotes: 0

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

South Asian
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allele count: 11
allele frequency: 6.661821705426356e-4
allele num: 16512
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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InbreedingCoeff
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QD
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DP
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MQ
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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FS
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SIO_000300: 0.0e0

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

European (Non-Finnish)
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allele frequency: 1.505434618974498e-5
allele num: 66426
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African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8638
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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ReadPosRankSum
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InbreedingCoeff
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QD
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FS
type: SiteQuality
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ClippingRankSum
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.535417e6

BaseQRankSum
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SIO_000300: -1.353e0

GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505253334136135e-5
allele num: 66434
num of homozygotes: 0

South Asian
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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.314e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.584e0

VQSLOD
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.684e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.535343e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505117399157134e-5
allele num: 66440
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.615e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.94e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

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

African
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allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

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

East Asian
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allele frequency: 1.62037037037037e-3
allele num: 8640
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European (Non-Finnish)
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European (Finnish)
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South Asian
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African
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Latino
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Other
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FS
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQ
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

European (Finnish)
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East Asian
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Other
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South Asian
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Latino
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European (Non-Finnish)
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FS
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MQ
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.64304235090752e-4
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
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East Asian
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European (Finnish)
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South Asian
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Other
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.09e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

BaseQRankSum
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SIO_000300: 1.7e0

FS
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 1.537077e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.7e-1

QD
type: SiteQuality
SIO_000300: 1.381e1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503533303262667e-5
allele num: 66510
num of homozygotes: 0

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

QD
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SIO_000300: 1.194e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 3.647e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.45e-1

DP
type: SiteQuality
SIO_000300: 1.536154e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
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SIO_000300: -4.564e0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

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

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

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

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

African
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allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.161e0

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
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MQ
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SIO_000300: 5.961e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.787e0

ReadPosRankSum
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SIO_000300: 1.64e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.536062e6

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

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

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.047777441790142e-4
allele num: 6614
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.008061605101673e-5
allele num: 66488
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.536409e6

MQ
type: SiteQuality
SIO_000300: 6.034e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

QD
type: SiteQuality
SIO_000300: 1.499e1

MQRankSum
type: SiteQuality
SIO_000300: 9.48e-1

FS
type: SiteQuality
SIO_000300: 1.802e0

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66484
num of homozygotes: 0

African
type: Population
allele count: 254
allele frequency: 2.448900887003471e-2
allele num: 10372
num of homozygotes: 3

Latino
type: Population
allele count: 4
allele frequency: 3.457216940363008e-4
allele num: 11570
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-2

QD
type: SiteQuality
SIO_000300: 1.28e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

FS
type: SiteQuality
SIO_000300: 5.32e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 1.555238e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 48528
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504257047444267e-5
allele num: 66478
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.749e0

DP
type: SiteQuality
SIO_000300: 1.536221e6

FS
type: SiteQuality
SIO_000300: 2.414e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.008785654110001e-5
allele num: 66472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

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

South Asian
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allele count: 0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.82e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.27e-1

FS
type: SiteQuality
SIO_000300: 6.159e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.536048e6

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504709741490866e-5
allele num: 66458
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 904
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.72e-1

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

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

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

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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East Asian
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African
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Other
type: Population
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
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allele num: 66420
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DP
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
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MQ
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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MQRankSum
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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South Asian
type: Population
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allele frequency: 0.0e0
allele num: 16512
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506114826194349e-5
allele num: 66396
num of homozygotes: 0

Other
type: Population
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.373e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 9.058e0

DP
type: SiteQuality
SIO_000300: 1.5345e6

VQSLOD
type: SiteQuality
SIO_000300: -1.642e0

QD
type: SiteQuality
SIO_000300: 7.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
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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: 7.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48338
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1413
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66390
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.601e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

DP
type: SiteQuality
SIO_000300: 1.534403e6

FS
type: SiteQuality
SIO_000300: 5.533e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.755e0

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.668e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.31e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.936108422071636e-4
allele num: 10330
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66348
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 8.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.861e0

QD
type: SiteQuality
SIO_000300: 1.675e1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.405e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

DP
type: SiteQuality
SIO_000300: 1.533083e6

GenotypeQuality
all individuals: 76
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66346
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.936108422071636e-4
allele num: 10330
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 2.602e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.682e1

DP
type: SiteQuality
SIO_000300: 1.533046e6

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

GenotypeQuality
all individuals: 599
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 789
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1411
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GenotypeQuality
all individuals: 74
bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66344
num of homozygotes: 0

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

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

African
type: Population
allele count: 4
allele frequency: 3.872966692486445e-4
allele num: 10328
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.533448e6

MQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.32e-1

FS
type: SiteQuality
SIO_000300: 1.167e0

VQSLOD
type: SiteQuality
SIO_000300: 3.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.233e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.168e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e-1

GenotypeQuality
all individuals: 76
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6880
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 19
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1450
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GenotypeQuality
all individuals: 595
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 48281
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variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66338
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: 3.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.032e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.140000000000001e0

FS
type: SiteQuality
SIO_000300: 1.368e0

MQRankSum
type: SiteQuality
SIO_000300: 4.36e-1

DP
type: SiteQuality
SIO_000300: 1.533083e6

MQ
type: SiteQuality
SIO_000300: 5.929e1

GenotypeQuality
all individuals: 42
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variant carriers: 0

GenotypeQuality
all individuals: 297
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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
all individuals: 595
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variant carriers: 1

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507749834147518e-5
allele num: 66324
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

QD
type: SiteQuality
SIO_000300: 1.114e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.614e0

VQSLOD
type: SiteQuality
SIO_000300: 8.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 4.235e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.713e0

DP
type: SiteQuality
SIO_000300: 1.532605e6

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 11562
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.017228374015629e-5
allele num: 66286
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.135e0

VQSLOD
type: SiteQuality
SIO_000300: 6.52e-1

FS
type: SiteQuality
SIO_000300: 6.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

QD
type: SiteQuality
SIO_000300: 1.173e1

DP
type: SiteQuality
SIO_000300: 1.532014e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66284
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: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.982e1

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.36e0

FS
type: SiteQuality
SIO_000300: 6.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

DP
type: SiteQuality
SIO_000300: 1.531741e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e0

QD
type: SiteQuality
SIO_000300: 1.205e1

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 45
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variant carriers: 0

GenotypeQuality
all individuals: 789
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508659706716553e-5
allele num: 66284
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.982e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

FS
type: SiteQuality
SIO_000300: 6.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

DP
type: SiteQuality
SIO_000300: 1.531741e6

QD
type: SiteQuality
SIO_000300: 1.205e1

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48120
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1442
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 2.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.320185614849188e-4
allele num: 8620
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.531318e6

QD
type: SiteQuality
SIO_000300: 9.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

FS
type: SiteQuality
SIO_000300: 2.268e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

GenotypeQuality
all individuals: 48099
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 296
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50961625554784e-5
allele num: 66242
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 2.061e0

QD
type: SiteQuality
SIO_000300: 8.630000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.018e0

DP
type: SiteQuality
SIO_000300: 1.530723e6

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1440
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66228
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.78e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.099999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.23e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.606e0

DP
type: SiteQuality
SIO_000300: 1.530357e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.5e-1

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
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variant carriers: 0

GenotypeQuality
all individuals: 65
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 6848
bin: 6.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66198
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.529616e6

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: 8.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.389e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.283e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.138e1

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

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

GenotypeQuality
all individuals: 99
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 47983
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1408
bin: 7.75e1
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: 10272
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66198
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.389e0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 1.529616e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.283e0

FS
type: SiteQuality
SIO_000300: 2.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

QD
type: SiteQuality
SIO_000300: 1.138e1

GenotypeQuality
all individuals: 1437
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6847
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 106
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variant carriers: 0

GenotypeQuality
all individuals: 296
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variant carriers: 0

GenotypeQuality
all individuals: 597
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variant carriers: 1

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

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

GenotypeQuality
all individuals: 47941
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511578692786746e-5
allele num: 66156
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

FS
type: SiteQuality
SIO_000300: 3.235e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.879999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.237e1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

DP
type: SiteQuality
SIO_000300: 1.528807e6

GenotypeQuality
all individuals: 6845
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 1408
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 296
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511670093118878e-5
allele num: 66152
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.528699e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.776e0

VQSLOD
type: SiteQuality
SIO_000300: -1.201e-1

FS
type: SiteQuality
SIO_000300: 4.426e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.579e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

GenotypeQuality
all individuals: 94
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 47795
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variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-5
allele num: 66120
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -4.771e-1

FS
type: SiteQuality
SIO_000300: 3.484e0

MQRankSum
type: SiteQuality
SIO_000300: -1.098e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.528377e6

QD
type: SiteQuality
SIO_000300: 1.776e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.732e0

GenotypeQuality
all individuals: 651
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 270
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variant carriers: 0

GenotypeQuality
all individuals: 1406
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512630464377553e-5
allele num: 66110
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.833e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.49e0

QD
type: SiteQuality
SIO_000300: 1.135e1

DP
type: SiteQuality
SIO_000300: 1.528391e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.55e-1

FS
type: SiteQuality
SIO_000300: 1.0619e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6826
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66116
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 2.925117004680187e-4
allele num: 10256
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.528532e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

FS
type: SiteQuality
SIO_000300: 3.245e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

QD
type: SiteQuality
SIO_000300: 1.301e1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.119e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 3
allele frequency: 2.933698415802855e-4
allele num: 10226
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66052
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.32e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.527301e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.844e0

QD
type: SiteQuality
SIO_000300: 1.5e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1401
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514784294716432e-5
allele num: 66016
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.214e0

MQRankSum
type: SiteQuality
SIO_000300: -2.878e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.993e0

DP
type: SiteQuality
SIO_000300: 1.526806e6

VQSLOD
type: SiteQuality
SIO_000300: -3.432e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21256214380987e-4
allele num: 16494
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.524915e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

FS
type: SiteQuality
SIO_000300: 7.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.315e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.241e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.550142571133895e-5
allele num: 65932
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
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: 11534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.027550711474417e-4
allele num: 6606
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 7.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.241e0

DP
type: SiteQuality
SIO_000300: 1.524915e6

MQ
type: SiteQuality
SIO_000300: 5.987e1

QD
type: SiteQuality
SIO_000300: 1.315e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516852228255923e-5
allele num: 65926
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.944e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.99e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.524043e6

QD
type: SiteQuality
SIO_000300: 1.304e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.49e0