8-17611488-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611488
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611488
    reference: chr 8
allele count: 105
allele frequency: 8.694356120826709e-4
allele num: 120768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1829C>T
  hgvsp: ENSP00000371286.3:p.Ser610Leu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.1033C>T
  hgvsp: ENSP00000431016.1:p.Ser345Leu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1829C>T
  hgvsp: ENSP00000371293.3:p.Ser610Leu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1829C>T
  hgvsp: ENSP00000430167.1:p.Ser610Leu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1829C>T
  hgvsp: ENSP00000262102.6:p.Ser610Leu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2303C>T
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 9.75e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser610Leu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

8-17611492-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611492
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611492
    reference: chr 8
allele count: 25
allele frequency: 2.070084790673026e-4
allele num: 120768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1825A>C
  hgvsp: ENSP00000371286.3:p.Lys609Gln
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.1029A>C
  hgvsp: ENSP00000431016.1:p.Lys344Gln
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1825A>C
  hgvsp: ENSP00000262102.6:p.Lys609Gln
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1825A>C
  hgvsp: ENSP00000371293.3:p.Lys609Gln
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1825A>C
  hgvsp: ENSP00000430167.1:p.Lys609Gln
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2299A>C
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 37929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3430
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys609Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

8-17611495-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611495
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611495
    reference: chr 8
allele count: 7
allele frequency: 5.796237413884473e-5
allele num: 120768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2296G>A
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1822G>A
  hgvsp: ENSP00000262102.6:p.Val608Met
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1822G>A
  hgvsp: ENSP00000430167.1:p.Val608Met
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1822G>A
  hgvsp: ENSP00000371293.3:p.Val608Met
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.1026G>A
  hgvsp: ENSP00000431016.1:p.Val343Met
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1822G>A
  hgvsp: ENSP00000371286.3:p.Val608Met
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3429
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37924
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5194
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val608Met
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

8-17611496-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611496
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611496
    reference: chr 8
allele count: 7
allele frequency: 5.79614142585079e-5
allele num: 120770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1821C>T
  hgvsp: ENST00000381862.3:c.1821C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1821C>T
  hgvsp: ENST00000519263.1:c.1821C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1821C>T
  hgvsp: ENST00000262102.6:c.1821C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2295C>T
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1821C>T
  hgvsp: ENST00000381869.3:c.1821C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.1025C>T
  hgvsp: ENST00000520196.1:c.1025C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 38779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3428
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala607Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-17611498-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611498
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611498
    reference: chr 8
allele count: 3
allele frequency: 2.48406061107891e-5
allele num: 120770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2293G>C
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1819G>C
  hgvsp: ENSP00000430167.1:p.Ala607Pro
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.1023G>C
  hgvsp: ENSP00000431016.1:p.Ala342Pro
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1819G>C
  hgvsp: ENSP00000371293.3:p.Ala607Pro
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1819G>C
  hgvsp: ENSP00000371286.3:p.Ala607Pro
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1819G>C
  hgvsp: ENSP00000262102.6:p.Ala607Pro
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37918
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3429
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5201
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala607Pro
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

8-17611500-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611500
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611500
    reference: chr 8
allele count: 2
allele frequency: 1.65604040738594e-5
allele num: 120770
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1817C>G
  hgvsp: ENSP00000262102.6:p.Ser606Cys
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2291C>G
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1817C>G
  hgvsp: ENSP00000371293.3:p.Ser606Cys
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.1021C>G
  hgvsp: ENSP00000431016.1:p.Ser341Cys
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1817C>G
  hgvsp: ENSP00000430167.1:p.Ser606Cys
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1817C>G
  hgvsp: ENSP00000371286.3:p.Ser606Cys
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3429
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37920
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5203
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser606Cys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

8-17611503-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611503
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611503
    reference: chr 8
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1814C>T
  hgvsp: ENSP00000371293.3:p.Thr605Ile
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.1018C>T
  hgvsp: ENSP00000431016.1:p.Thr340Ile
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1814C>T
  hgvsp: ENSP00000262102.6:p.Thr605Ile
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1814C>T
  hgvsp: ENSP00000371286.3:p.Thr605Ile
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2288C>T
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1814C>T
  hgvsp: ENSP00000430167.1:p.Thr605Ile
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37909
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr605Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

8-17611507-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611507
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611507
    reference: chr 8
allele count: 2
allele frequency: 1.65604040738594e-5
allele num: 120770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1810A>G
  hgvsp: ENSP00000430167.1:p.Thr604Ala
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1810A>G
  hgvsp: ENSP00000262102.6:p.Thr604Ala
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.1014A>G
  hgvsp: ENSP00000431016.1:p.Thr339Ala
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2284A>G
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1810A>G
  hgvsp: ENSP00000371293.3:p.Thr604Ala
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1810A>G
  hgvsp: ENSP00000371286.3:p.Thr604Ala
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37909
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr604Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/8-17611516-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611516
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611516
    reference: chr 8
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1801G>T
  hgvsp: ENSP00000262102.6:p.Val601Phe
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2275G>T
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.1005G>T
  hgvsp: ENSP00000431016.1:p.Val336Phe
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1801G>T
  hgvsp: ENSP00000371293.3:p.Val601Phe
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1801G>T
  hgvsp: ENSP00000371286.3:p.Val601Phe
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1801G>T
  hgvsp: ENSP00000430167.1:p.Val601Phe
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3429
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val601Phe
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/8-17611517-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611517
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611517
    reference: chr 8
allele count: 3
allele frequency: 2.484101748807631e-5
allele num: 120768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.1004G>T
  hgvsp: ENSP00000431016.1:p.Arg335Ser
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1800G>T
  hgvsp: ENSP00000371286.3:p.Arg600Ser
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1800G>T
  hgvsp: ENSP00000262102.6:p.Arg600Ser
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1800G>T
  hgvsp: ENSP00000371293.3:p.Arg600Ser
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1800G>T
  hgvsp: ENSP00000430167.1:p.Arg600Ser
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2274G>T
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2631
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3429
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg600Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

8-17611519-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611519
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611519
    reference: chr 8
allele count: 84
allele frequency: 6.955369711020949e-4
allele num: 120770
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1798A>G
  hgvsp: ENSP00000262102.6:p.Arg600Gly
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1798A>G
  hgvsp: ENSP00000371286.3:p.Arg600Gly
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2272A>G
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1798A>G
  hgvsp: ENSP00000371293.3:p.Arg600Gly
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.1002A>G
  hgvsp: ENSP00000431016.1:p.Arg335Gly
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1798A>G
  hgvsp: ENSP00000430167.1:p.Arg600Gly
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 9.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38705
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3426
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5280
  bin: 9.75e1
  variant carriers: 84
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg600Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

8-17611521-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611521
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611521
    reference: chr 8
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2270A>G
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1796A>G
  hgvsp: ENSP00000371293.3:p.His599Arg
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.1000A>G
  hgvsp: ENSP00000431016.1:p.His334Arg
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1796A>G
  hgvsp: ENSP00000430167.1:p.His599Arg
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1796A>G
  hgvsp: ENSP00000371286.3:p.His599Arg
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1796A>G
  hgvsp: ENSP00000262102.6:p.His599Arg
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3427
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His599Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum

8-17611522-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611522
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611522
    reference: chr 8
allele count: 21
allele frequency: 1.738842427755237e-4
allele num: 120770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1795C>T
  hgvsp: ENSP00000371293.3:p.His599Tyr
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1795C>T
  hgvsp: ENSP00000430167.1:p.His599Tyr
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.999C>T
  hgvsp: ENSP00000431016.1:p.His334Tyr
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2269C>T
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1795C>T
  hgvsp: ENSP00000371286.3:p.His599Tyr
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1795C>T
  hgvsp: ENSP00000262102.6:p.His599Tyr
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10305
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6646
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37835
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His599Tyr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

8-17611526-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611526
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611526
    reference: chr 8
allele count: 3
allele frequency: 2.48406061107891e-5
allele num: 120770
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1791T>C
  hgvsp: ENST00000262102.6:c.1791T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.995T>C
  hgvsp: ENST00000520196.1:c.995T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2265T>C
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1791T>C
  hgvsp: ENST00000381862.3:c.1791T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1791T>C
  hgvsp: ENST00000381869.3:c.1791T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1791T>C
  hgvsp: ENST00000519263.1:c.1791T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5293
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ala597Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

8-17611529-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611529
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611529
    reference: chr 8
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1788T>C
  hgvsp: ENST00000381869.3:c.1788T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.992T>C
  hgvsp: ENST00000520196.1:c.992T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2262T>C
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1788T>C
  hgvsp: ENST00000381862.3:c.1788T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1788T>C
  hgvsp: ENST00000519263.1:c.1788T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1788T>C
  hgvsp: ENST00000262102.6:c.1788T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37831
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn596Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

8-17611535-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611535
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611535
    reference: chr 8
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1782T>C
  hgvsp: ENST00000519263.1:c.1782T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2256T>C
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.986T>C
  hgvsp: ENST00000520196.1:c.986T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1782T>C
  hgvsp: ENST00000381862.3:c.1782T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1782T>C
  hgvsp: ENST00000381869.3:c.1782T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1782T>C
  hgvsp: ENST00000262102.6:c.1782T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3428
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2631
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37830
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5294
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser594Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

8-17611536-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611536
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611536
    reference: chr 8
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1781C>G
  hgvsp: ENSP00000430167.1:p.Ser594Cys
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2255C>G
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1781C>G
  hgvsp: ENSP00000262102.6:p.Ser594Cys
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1781C>G
  hgvsp: ENSP00000371286.3:p.Ser594Cys
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.985C>G
  hgvsp: ENSP00000431016.1:p.Ser329Cys
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1781C>G
  hgvsp: ENSP00000371293.3:p.Ser594Cys
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37823
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2631
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3428
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser594Cys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

8-17611536-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611536
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611536
    reference: chr 8
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1781C>A
  hgvsp: ENSP00000371293.3:p.Ser594Tyr
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1781C>A
  hgvsp: ENSP00000262102.6:p.Ser594Tyr
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.985C>A
  hgvsp: ENSP00000431016.1:p.Ser329Tyr
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2255C>A
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1781C>A
  hgvsp: ENSP00000430167.1:p.Ser594Tyr
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1781C>A
  hgvsp: ENSP00000371286.3:p.Ser594Tyr
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2631
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5295
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser594Tyr
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

8-17611539-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611539
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611539
    reference: chr 8
allele count: 16
allele frequency: 1.324832325908752e-4
allele num: 120770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1778A>T
  hgvsp: ENSP00000371293.3:p.His593Leu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1778A>T
  hgvsp: ENSP00000430167.1:p.His593Leu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2252A>T
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1778A>T
  hgvsp: ENSP00000262102.6:p.His593Leu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.982A>T
  hgvsp: ENSP00000431016.1:p.His328Leu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1778A>T
  hgvsp: ENSP00000371286.3:p.His593Leu
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His593Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ

8-17611539-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611539
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611539
    reference: chr 8
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2252A>G
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1778A>G
  hgvsp: ENSP00000371293.3:p.His593Arg
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1778A>G
  hgvsp: ENSP00000430167.1:p.His593Arg
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1778A>G
  hgvsp: ENSP00000371286.3:p.His593Arg
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.982A>G
  hgvsp: ENSP00000431016.1:p.His328Arg
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1778A>G
  hgvsp: ENSP00000262102.6:p.His593Arg
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6646
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His593Arg
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

8-17611540-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611540
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611540
    reference: chr 8
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.981C>G
  hgvsp: ENSP00000431016.1:p.His328Asp
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1777C>G
  hgvsp: ENSP00000262102.6:p.His593Asp
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2251C>G
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1777C>G
  hgvsp: ENSP00000371293.3:p.His593Asp
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1777C>G
  hgvsp: ENSP00000371286.3:p.His593Asp
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1777C>G
  hgvsp: ENSP00000430167.1:p.His593Asp
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His593Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

8-17611542-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611542
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611542
    reference: chr 8
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1775C>T
  hgvsp: ENSP00000430167.1:p.Thr592Ile
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2249C>T
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1775C>T
  hgvsp: ENSP00000371286.3:p.Thr592Ile
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1775C>T
  hgvsp: ENSP00000262102.6:p.Thr592Ile
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1775C>T
  hgvsp: ENSP00000371293.3:p.Thr592Ile
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.979C>T
  hgvsp: ENSP00000431016.1:p.Thr327Ile
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3427
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr592Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD

8-17611543-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611543
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611543
    reference: chr 8
allele count: 2
allele frequency: 1.656067832538421e-5
allele num: 120768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1774A>G
  hgvsp: ENSP00000371293.3:p.Thr592Ala
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1774A>G
  hgvsp: ENSP00000430167.1:p.Thr592Ala
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2248A>G
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1774A>G
  hgvsp: ENSP00000371286.3:p.Thr592Ala
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.978A>G
  hgvsp: ENSP00000431016.1:p.Thr327Ala
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1774A>G
  hgvsp: ENSP00000262102.6:p.Thr592Ala
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10307
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37805
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5314
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3426
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr592Ala
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

8-17611546-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611546
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611546
    reference: chr 8
allele count: 285
allele frequency: 2.35989666136725e-3
allele num: 120768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.975A>G
  hgvsp: ENSP00000431016.1:p.Thr326Ala
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2245A>G
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1771A>G
  hgvsp: ENSP00000371293.3:p.Thr591Ala
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1771A>G
  hgvsp: ENSP00000262102.6:p.Thr591Ala
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1771A>G
  hgvsp: ENSP00000371286.3:p.Thr591Ala
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1771A>G
  hgvsp: ENSP00000430167.1:p.Thr591Ala
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 9.75e1
  variant carriers: 216
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr591Ala
num of homozygotes: 2
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

8-17611549-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611549
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611549
    reference: chr 8
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.972G>A
  hgvsp: ENSP00000431016.1:p.Val325Ile
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1768G>A
  hgvsp: ENSP00000262102.6:p.Val590Ile
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1768G>A
  hgvsp: ENSP00000371293.3:p.Val590Ile
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1768G>A
  hgvsp: ENSP00000430167.1:p.Val590Ile
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1768G>A
  hgvsp: ENSP00000371286.3:p.Val590Ile
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2242G>A
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2619
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val590Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

8-17611562-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611562
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611562
    reference: chr 8
allele count: 6
allele frequency: 4.968368056705641e-5
allele num: 120764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1755C>A
  hgvsp: ENSP00000371293.3:p.Ser585Arg
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1755C>A
  hgvsp: ENSP00000371286.3:p.Ser585Arg
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.959C>A
  hgvsp: ENSP00000431016.1:p.Ser320Arg
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1755C>A
  hgvsp: ENSP00000430167.1:p.Ser585Arg
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2229C>A
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1755C>A
  hgvsp: ENSP00000262102.6:p.Ser585Arg
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2379
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5567
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser585Arg
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

8-17611566-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611566
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611566
    reference: chr 8
allele count: 2
allele frequency: 1.656095258599275e-5
allele num: 120766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1751C>G
  hgvsp: ENSP00000430167.1:p.Thr584Ser
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1751C>G
  hgvsp: ENSP00000262102.6:p.Thr584Ser
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2225C>G
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.955C>G
  hgvsp: ENSP00000431016.1:p.Thr319Ser
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1751C>G
  hgvsp: ENSP00000371293.3:p.Thr584Ser
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1751C>G
  hgvsp: ENSP00000371286.3:p.Thr584Ser
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6616
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5568
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr584Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

8-17611568-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611568
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611568
    reference: chr 8
allele count: 2
allele frequency: 1.656067832538421e-5
allele num: 120768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1749T>C
  hgvsp: ENST00000381869.3:c.1749T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2223T>C
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1749T>C
  hgvsp: ENST00000519263.1:c.1749T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.953T>C
  hgvsp: ENST00000520196.1:c.953T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1749T>C
  hgvsp: ENST00000381862.3:c.1749T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1749T>C
  hgvsp: ENST00000262102.6:c.1749T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37599
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6617
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile583Ile
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

8-17611571-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611571
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611571
    reference: chr 8
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1746C>T
  hgvsp: ENST00000381869.3:c.1746C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.950C>T
  hgvsp: ENST00000520196.1:c.950C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1746C>T
  hgvsp: ENST00000381862.3:c.1746C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2220C>T
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1746C>T
  hgvsp: ENST00000519263.1:c.1746C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1746C>T
  hgvsp: ENST00000262102.6:c.1746C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6617
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3403
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5571
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu582Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-17611572-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611572
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611572
    reference: chr 8
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1745T>G
  hgvsp: ENSP00000371293.3:p.Leu582Arg
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2219T>G
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1745T>G
  hgvsp: ENSP00000371286.3:p.Leu582Arg
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1745T>G
  hgvsp: ENSP00000430167.1:p.Leu582Arg
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.949T>G
  hgvsp: ENSP00000431016.1:p.Leu317Arg
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1745T>G
  hgvsp: ENSP00000262102.6:p.Leu582Arg
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5571
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu582Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

8-17611573-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611573
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611573
    reference: chr 8
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1744C>G
  hgvsp: ENSP00000371293.3:p.Leu582Val
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1744C>G
  hgvsp: ENSP00000430167.1:p.Leu582Val
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.948C>G
  hgvsp: ENSP00000431016.1:p.Leu317Val
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1744C>G
  hgvsp: ENSP00000371286.3:p.Leu582Val
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1744C>G
  hgvsp: ENSP00000262102.6:p.Leu582Val
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2218C>G
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5572
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37604
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu582Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

8-17611577-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611577
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611577
    reference: chr 8
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1740T>A
  hgvsp: ENSP00000371293.3:p.Asn580Lys
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1740T>A
  hgvsp: ENSP00000371286.3:p.Asn580Lys
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1740T>A
  hgvsp: ENSP00000430167.1:p.Asn580Lys
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2214T>A
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1740T>A
  hgvsp: ENSP00000262102.6:p.Asn580Lys
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.944T>A
  hgvsp: ENSP00000431016.1:p.Asn315Lys
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3404
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5573
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6619
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn580Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

8-17611589-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611589
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611589
    reference: chr 8
allele count: 2
allele frequency: 1.656067832538421e-5
allele num: 120768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1728G>C
  hgvsp: ENSP00000371286.3:p.Lys576Asn
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2202G>C
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1728G>C
  hgvsp: ENSP00000262102.6:p.Lys576Asn
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1728G>C
  hgvsp: ENSP00000371293.3:p.Lys576Asn
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1728G>C
  hgvsp: ENSP00000430167.1:p.Lys576Asn
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.932G>C
  hgvsp: ENSP00000431016.1:p.Lys311Asn
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys576Asn
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/8-17611592-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611592
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611592
    reference: chr 8
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1725T>G
  hgvsp: ENSP00000430167.1:p.His575Gln
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.929T>G
  hgvsp: ENSP00000431016.1:p.His310Gln
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1725T>G
  hgvsp: ENSP00000371293.3:p.His575Gln
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1725T>G
  hgvsp: ENSP00000371286.3:p.His575Gln
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1725T>G
  hgvsp: ENSP00000262102.6:p.His575Gln
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2199T>G
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3404
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His575Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

8-17611593-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611593
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611593
    reference: chr 8
allele count: 1131
allele frequency: 9.36506359300477e-3
allele num: 120768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1724A>G
  hgvsp: ENSP00000430167.1:p.His575Arg
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1724A>G
  hgvsp: ENSP00000371293.3:p.His575Arg
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2198A>G
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1724A>G
  hgvsp: ENSP00000262102.6:p.His575Arg
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1724A>G
  hgvsp: ENSP00000371286.3:p.His575Arg
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.928A>G
  hgvsp: ENSP00000431016.1:p.His310Arg
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 37676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 9.75e1
  variant carriers: 1038
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10076
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6614
  bin: 9.75e1
  variant carriers: 1117
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His575Arg
num of homozygotes: 14
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-17611600-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611600
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611600
    reference: chr 8
allele count: 2
allele frequency: 1.656067832538421e-5
allele num: 120768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.921A>G
  hgvsp: ENSP00000431016.1:p.Lys308Glu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2191A>G
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1717A>G
  hgvsp: ENSP00000262102.6:p.Lys573Glu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1717A>G
  hgvsp: ENSP00000371293.3:p.Lys573Glu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1717A>G
  hgvsp: ENSP00000371286.3:p.Lys573Glu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1717A>G
  hgvsp: ENSP00000430167.1:p.Lys573Glu
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3343
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6601
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys573Glu
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD

8-17611607-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611607
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611607
    reference: chr 8
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2184A>G
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1710A>G
  hgvsp: ENST00000519263.1:c.1710A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1710A>G
  hgvsp: ENST00000381869.3:c.1710A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.914A>G
  hgvsp: ENST00000520196.1:c.914A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1710A>G
  hgvsp: ENST00000262102.6:c.1710A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1710A>G
  hgvsp: ENST00000381862.3:c.1710A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3343
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu570Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

8-17611610-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611610
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611610
    reference: chr 8
allele count: 9
allele frequency: 7.452305246422893e-5
allele num: 120768
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1707T>C
  hgvsp: ENST00000262102.6:c.1707T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.911T>C
  hgvsp: ENST00000520196.1:c.911T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1707T>C
  hgvsp: ENST00000519263.1:c.1707T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1707T>C
  hgvsp: ENST00000381869.3:c.1707T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1707T>C
  hgvsp: ENST00000381862.3:c.1707T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2181T>C
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6609
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile569Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum

8-17611617-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611617
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611617
    reference: chr 8
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2174C>T
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1700C>T
  hgvsp: ENSP00000371293.3:p.Ala567Val
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1700C>T
  hgvsp: ENSP00000430167.1:p.Ala567Val
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.904C>T
  hgvsp: ENSP00000431016.1:p.Ala302Val
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1700C>T
  hgvsp: ENSP00000262102.6:p.Ala567Val
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1700C>T
  hgvsp: ENSP00000371286.3:p.Ala567Val
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6608
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6499
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36847
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala567Val
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum

8-17611625-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611625
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611625
    reference: chr 8
allele count: 4
allele frequency: 3.312245371137094e-5
allele num: 120764
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1692C>G
  hgvsp: ENSP00000262102.6:p.Asp564Glu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1692C>G
  hgvsp: ENSP00000430167.1:p.Asp564Glu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2166C>G
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1692C>G
  hgvsp: ENSP00000371286.3:p.Asp564Glu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1692C>G
  hgvsp: ENSP00000371293.3:p.Asp564Glu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.896C>G
  hgvsp: ENSP00000431016.1:p.Asp299Glu
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6501
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36852
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp564Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

8-17611628-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611628
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611628
    reference: chr 8
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1689A>G
  hgvsp: ENST00000381869.3:c.1689A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1689A>G
  hgvsp: ENST00000519263.1:c.1689A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.893A>G
  hgvsp: ENST00000520196.1:c.893A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2163A>G
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1689A>G
  hgvsp: ENST00000381862.3:c.1689A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1689A>G
  hgvsp: ENST00000262102.6:c.1689A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6609
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala563Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ

8-17611634-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611634
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611634
    reference: chr 8
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2157G>A
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1683G>A
  hgvsp: ENST00000381862.3:c.1683G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1683G>A
  hgvsp: ENST00000381869.3:c.1683G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1683G>A
  hgvsp: ENST00000262102.6:c.1683G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.887G>A
  hgvsp: ENST00000520196.1:c.887G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1683G>A
  hgvsp: ENST00000519263.1:c.1683G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6504
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36860
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu561Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-17611636-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611636
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611636
    reference: chr 8
allele count: 3
allele frequency: 2.484184028352821e-5
allele num: 120764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1681T>G
  hgvsp: ENSP00000371293.3:p.Leu561Val
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1681T>G
  hgvsp: ENSP00000430167.1:p.Leu561Val
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1681T>G
  hgvsp: ENSP00000371286.3:p.Leu561Val
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.885T>G
  hgvsp: ENSP00000431016.1:p.Leu296Val
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1681T>G
  hgvsp: ENSP00000262102.6:p.Leu561Val
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2155T>G
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36866
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu561Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

8-17611641-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611641
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611641
    reference: chr 8
allele count: 2
allele frequency: 1.656177542232527e-5
allele num: 120760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1676C>T
  hgvsp: ENSP00000371286.3:p.Ser559Phe
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.880C>T
  hgvsp: ENSP00000431016.1:p.Ser294Phe
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2150C>T
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1676C>T
  hgvsp: ENSP00000371293.3:p.Ser559Phe
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1676C>T
  hgvsp: ENSP00000262102.6:p.Ser559Phe
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1676C>T
  hgvsp: ENSP00000430167.1:p.Ser559Phe
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6508
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser559Phe
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

8-17611641-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611641
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611641
    reference: chr 8
allele count: 2
allele frequency: 1.656177542232527e-5
allele num: 120760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1676C>G
  hgvsp: ENSP00000430167.1:p.Ser559Cys
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1676C>G
  hgvsp: ENSP00000371293.3:p.Ser559Cys
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1676C>G
  hgvsp: ENSP00000371286.3:p.Ser559Cys
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.880C>G
  hgvsp: ENSP00000431016.1:p.Ser294Cys
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1676C>G
  hgvsp: ENSP00000262102.6:p.Ser559Cys
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2150C>G
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6616
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser559Cys
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

8-17611646-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611646
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611646
    reference: chr 8
allele count: 3
allele frequency: 2.484266313348791e-5
allele num: 120760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1671G>A
  hgvsp: ENST00000381869.3:c.1671G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1671G>A
  hgvsp: ENST00000519263.1:c.1671G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.875G>A
  hgvsp: ENST00000520196.1:c.875G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1671G>A
  hgvsp: ENST00000381862.3:c.1671G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1671G>A
  hgvsp: ENST00000262102.6:c.1671G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2145G>A
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36865
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6617
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro557Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

8-17611647-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611647
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611647
    reference: chr 8
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1670C>A
  hgvsp: ENSP00000262102.6:p.Pro557Gln
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2144C>A
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1670C>A
  hgvsp: ENSP00000371286.3:p.Pro557Gln
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1670C>A
  hgvsp: ENSP00000371293.3:p.Pro557Gln
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1670C>A
  hgvsp: ENSP00000430167.1:p.Pro557Gln
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.874C>A
  hgvsp: ENSP00000431016.1:p.Pro292Gln
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36874
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6618
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro557Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

8-17611648-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611648
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611648
    reference: chr 8
allele count: 2
allele frequency: 1.656204971927326e-5
allele num: 120758
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1669C>A
  hgvsp: ENSP00000262102.6:p.Pro557Thr
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1669C>A
  hgvsp: ENSP00000430167.1:p.Pro557Thr
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2143C>A
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1669C>A
  hgvsp: ENSP00000371286.3:p.Pro557Thr
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.873C>A
  hgvsp: ENSP00000431016.1:p.Pro292Thr
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1669C>A
  hgvsp: ENSP00000371293.3:p.Pro557Thr
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6510
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro557Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

8-17611650-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611650
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611650
    reference: chr 8
allele count: 2
allele frequency: 1.656177542232527e-5
allele num: 120760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1667C>T
  hgvsp: ENSP00000371286.3:p.Thr556Ile
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1667C>T
  hgvsp: ENSP00000430167.1:p.Thr556Ile
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.871C>T
  hgvsp: ENSP00000431016.1:p.Thr291Ile
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1667C>T
  hgvsp: ENSP00000371293.3:p.Thr556Ile
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2141C>T
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1667C>T
  hgvsp: ENSP00000262102.6:p.Thr556Ile
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6512
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36866
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr556Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

8-17611653-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611653
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611653
    reference: chr 8
allele count: 3
allele frequency: 2.484266313348791e-5
allele num: 120760
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1664G>C
  hgvsp: ENSP00000262102.6:p.Arg555Thr
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1664G>C
  hgvsp: ENSP00000371293.3:p.Arg555Thr
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1664G>C
  hgvsp: ENSP00000430167.1:p.Arg555Thr
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.868G>C
  hgvsp: ENSP00000431016.1:p.Arg290Thr
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1664G>C
  hgvsp: ENSP00000371286.3:p.Arg555Thr
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2138G>C
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37688
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6511
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg555Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-17611657-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611657
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611657
    reference: chr 8
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.864A>G
  hgvsp: ENSP00000431016.1:p.Ser289Gly
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1660A>G
  hgvsp: ENSP00000371293.3:p.Ser554Gly
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1660A>G
  hgvsp: ENSP00000371286.3:p.Ser554Gly
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2134A>G
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1660A>G
  hgvsp: ENSP00000262102.6:p.Ser554Gly
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1660A>G
  hgvsp: ENSP00000430167.1:p.Ser554Gly
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3346
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36865
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser554Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP

8-17611661-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611661
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611661
    reference: chr 8
allele count: 3
allele frequency: 2.484225170169424e-5
allele num: 120762
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1656C>G
  hgvsp: ENST00000262102.6:c.1656C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1656C>G
  hgvsp: ENST00000381862.3:c.1656C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.860C>G
  hgvsp: ENST00000520196.1:c.860C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1656C>G
  hgvsp: ENST00000519263.1:c.1656C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1656C>G
  hgvsp: ENST00000381869.3:c.1656C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2130C>G
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6628
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6512
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36858
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val552Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD

8-17611662-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611662
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611662
    reference: chr 8
allele count: 12
allele frequency: 9.936900680677696e-5
allele num: 120762
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.859T>C
  hgvsp: ENSP00000431016.1:p.Val287Ala
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2129T>C
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1655T>C
  hgvsp: ENSP00000430167.1:p.Val552Ala
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1655T>C
  hgvsp: ENSP00000371286.3:p.Val552Ala
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1655T>C
  hgvsp: ENSP00000262102.6:p.Val552Ala
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1655T>C
  hgvsp: ENSP00000371293.3:p.Val552Ala
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6511
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3343
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val552Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

8-17611663-CTGTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611663
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611659
    reference: chr 8
allele count: 2
allele frequency: 1.656150113446283e-5
allele num: 120762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2124_2127delAACA
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.854_857delAACA
  hgvsp: ENSP00000431016.1:p.Thr286SerfsTer2
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1650_1653delAACA
  hgvsp: ENSP00000371286.3:p.Thr551SerfsTer2
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1650_1653delAACA
  hgvsp: ENSP00000262102.6:p.Thr551SerfsTer2
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1650_1653delAACA
  hgvsp: ENSP00000430167.1:p.Thr551SerfsTer2
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1650_1653delAACA
  hgvsp: ENSP00000371293.3:p.Thr551SerfsTer2
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3343
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr551SerfsTer2
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: CTGTT
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

8-17611666-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611666
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611666
    reference: chr 8
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2125A>T
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1651A>T
  hgvsp: ENSP00000371286.3:p.Thr551Ser
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1651A>T
  hgvsp: ENSP00000262102.6:p.Thr551Ser
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.855A>T
  hgvsp: ENSP00000431016.1:p.Thr286Ser
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1651A>T
  hgvsp: ENSP00000371293.3:p.Thr551Ser
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1651A>T
  hgvsp: ENSP00000430167.1:p.Thr551Ser
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3343
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr551Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

8-17611667-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611667
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611667
    reference: chr 8
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.854A>G
  hgvsp: ENST00000520196.1:c.854A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2124A>G
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1650A>G
  hgvsp: ENST00000381869.3:c.1650A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1650A>G
  hgvsp: ENST00000381862.3:c.1650A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1650A>G
  hgvsp: ENST00000262102.6:c.1650A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1650A>G
  hgvsp: ENST00000519263.1:c.1650A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37673
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6639
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3343
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln550Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

8-17611668-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611668
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611668
    reference: chr 8
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2123A>C
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.853A>C
  hgvsp: ENSP00000431016.1:p.Gln285Pro
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1649A>C
  hgvsp: ENSP00000262102.6:p.Gln550Pro
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1649A>C
  hgvsp: ENSP00000371286.3:p.Gln550Pro
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1649A>C
  hgvsp: ENSP00000371293.3:p.Gln550Pro
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1649A>C
  hgvsp: ENSP00000430167.1:p.Gln550Pro
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6638
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln550Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

8-17611670-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611670
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611670
    reference: chr 8
allele count: 8
allele frequency: 6.624600453785131e-5
allele num: 120762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2121A>G
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1647A>G
  hgvsp: ENST00000519263.1:c.1647A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.851A>G
  hgvsp: ENST00000520196.1:c.851A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1647A>G
  hgvsp: ENST00000381862.3:c.1647A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1647A>G
  hgvsp: ENST00000381869.3:c.1647A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1647A>G
  hgvsp: ENST00000262102.6:c.1647A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln549Gln
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: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

8-17611673-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611673
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611673
    reference: chr 8
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1644A>C
  hgvsp: ENSP00000430167.1:p.Arg548Ser
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.848A>C
  hgvsp: ENSP00000431016.1:p.Arg283Ser
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1644A>C
  hgvsp: ENSP00000371293.3:p.Arg548Ser
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2118A>C
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1644A>C
  hgvsp: ENSP00000371286.3:p.Arg548Ser
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1644A>C
  hgvsp: ENSP00000262102.6:p.Arg548Ser
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6649
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36839
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg548Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

8-17611685-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611685
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611685
    reference: chr 8
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.836A>G
  hgvsp: ENST00000520196.1:c.836A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1632A>G
  hgvsp: ENST00000381862.3:c.1632A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1632A>G
  hgvsp: ENST00000262102.6:c.1632A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1632A>G
  hgvsp: ENST00000381869.3:c.1632A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1632A>G
  hgvsp: ENST00000519263.1:c.1632A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2106A>G
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6650
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser544Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

8-17611686-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611686
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611686
    reference: chr 8
allele count: 5
allele frequency: 4.140443855581318e-5
allele num: 120760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.835C>T
  hgvsp: ENSP00000431016.1:p.Ser279Leu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1631C>T
  hgvsp: ENSP00000430167.1:p.Ser544Leu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1631C>T
  hgvsp: ENSP00000262102.6:p.Ser544Leu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2105C>T
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1631C>T
  hgvsp: ENSP00000371286.3:p.Ser544Leu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1631C>T
  hgvsp: ENSP00000371293.3:p.Ser544Leu
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 37651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36827
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser544Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

8-17611686-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611686
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611686
    reference: chr 8
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1631C>A
  hgvsp: ENSP00000371293.3:p.Ser544Ter
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.835C>A
  hgvsp: ENSP00000431016.1:p.Ser279Ter
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1631C>A
  hgvsp: ENSP00000262102.6:p.Ser544Ter
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1631C>A
  hgvsp: ENSP00000430167.1:p.Ser544Ter
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1631C>A
  hgvsp: ENSP00000371286.3:p.Ser544Ter
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2105C>A
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6656
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser544Ter
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-17611697-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611697
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611697
    reference: chr 8
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.824A>G
  hgvsp: ENST00000520196.1:c.824A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1620A>G
  hgvsp: ENST00000519263.1:c.1620A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1620A>G
  hgvsp: ENST00000381869.3:c.1620A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1620A>G
  hgvsp: ENST00000262102.6:c.1620A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1620A>G
  hgvsp: ENST00000381862.3:c.1620A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2094A>G
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6657
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3346
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser540Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

8-17611698-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611698
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611698
    reference: chr 8
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1619C>T
  hgvsp: ENSP00000262102.6:p.Ser540Leu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1619C>T
  hgvsp: ENSP00000371293.3:p.Ser540Leu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2093C>T
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1619C>T
  hgvsp: ENSP00000371286.3:p.Ser540Leu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1619C>T
  hgvsp: ENSP00000430167.1:p.Ser540Leu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.823C>T
  hgvsp: ENSP00000431016.1:p.Ser275Leu
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6510
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6658
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36832
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3346
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser540Leu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

8-17611706-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611706
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611706
    reference: chr 8
allele count: 3
allele frequency: 2.484184028352821e-5
allele num: 120764
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1611C>G
  hgvsp: ENST00000519263.1:c.1611C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.815C>G
  hgvsp: ENST00000520196.1:c.815C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2085C>G
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1611C>G
  hgvsp: ENST00000381862.3:c.1611C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1611C>G
  hgvsp: ENST00000262102.6:c.1611C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1611C>G
  hgvsp: ENST00000381869.3:c.1611C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36823
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr537Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

8-17611709-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611709
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611709
    reference: chr 8
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1608G>C
  hgvsp: ENSP00000371286.3:p.Gln536His
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2082G>C
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1608G>C
  hgvsp: ENSP00000371293.3:p.Gln536His
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.812G>C
  hgvsp: ENSP00000431016.1:p.Gln271His
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1608G>C
  hgvsp: ENSP00000430167.1:p.Gln536His
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1608G>C
  hgvsp: ENSP00000262102.6:p.Gln536His
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6507
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln536His
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

8-17611711-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611711
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611711
    reference: chr 8
allele count: 3
allele frequency: 2.484184028352821e-5
allele num: 120764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1606C>G
  hgvsp: ENSP00000430167.1:p.Gln536Glu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.810C>G
  hgvsp: ENSP00000431016.1:p.Gln271Glu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2080C>G
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1606C>G
  hgvsp: ENSP00000262102.6:p.Gln536Glu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1606C>G
  hgvsp: ENSP00000371286.3:p.Gln536Glu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1606C>G
  hgvsp: ENSP00000371293.3:p.Gln536Glu
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6666
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3346
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln536Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

8-17611718-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611718
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611718
    reference: chr 8
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1599A>C
  hgvsp: ENSP00000371286.3:p.Arg533Ser
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.803A>C
  hgvsp: ENSP00000431016.1:p.Arg268Ser
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2073A>C
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1599A>C
  hgvsp: ENSP00000430167.1:p.Arg533Ser
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1599A>C
  hgvsp: ENSP00000371293.3:p.Arg533Ser
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1599A>C
  hgvsp: ENSP00000262102.6:p.Arg533Ser
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6506
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6667
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg533Ser
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

8-17611722-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611722
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611722
    reference: chr 8
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1595C>T
  hgvsp: ENSP00000371286.3:p.Pro532Leu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1595C>T
  hgvsp: ENSP00000371293.3:p.Pro532Leu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1595C>T
  hgvsp: ENSP00000430167.1:p.Pro532Leu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.799C>T
  hgvsp: ENSP00000431016.1:p.Pro267Leu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1595C>T
  hgvsp: ENSP00000262102.6:p.Pro532Leu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2069C>T
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36828
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3346
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6668
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro532Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff

8-17611724-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611724
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611724
    reference: chr 8
allele count: 2
allele frequency: 1.656150113446283e-5
allele num: 120762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1593G>A
  hgvsp: ENST00000519263.1:c.1593G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1593G>A
  hgvsp: ENST00000381869.3:c.1593G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.797G>A
  hgvsp: ENST00000520196.1:c.797G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2067G>A
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1593G>A
  hgvsp: ENST00000381862.3:c.1593G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1593G>A
  hgvsp: ENST00000262102.6:c.1593G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36821
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr531Thr
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-17611725-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611725
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611725
    reference: chr 8
allele count: 3
allele frequency: 2.484307457890989e-5
allele num: 120758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2066C>T
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.796C>T
  hgvsp: ENSP00000431016.1:p.Thr266Met
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1592C>T
  hgvsp: ENSP00000371286.3:p.Thr531Met
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1592C>T
  hgvsp: ENSP00000371293.3:p.Thr531Met
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1592C>T
  hgvsp: ENSP00000262102.6:p.Thr531Met
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1592C>T
  hgvsp: ENSP00000430167.1:p.Thr531Met
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 37637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36821
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr531Met
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

8-17611727-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611727
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611727
    reference: chr 8
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2064C>A
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1590C>A
  hgvsp: ENST00000381862.3:c.1590C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1590C>A
  hgvsp: ENST00000519263.1:c.1590C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.794C>A
  hgvsp: ENST00000520196.1:c.794C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1590C>A
  hgvsp: ENST00000262102.6:c.1590C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1590C>A
  hgvsp: ENST00000381869.3:c.1590C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36822
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val530Val
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

8-17611732-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17611732
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 17611732
    reference: chr 8
allele count: 2
allele frequency: 1.656150113446283e-5
allele num: 120762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000431016
  ensembl transcript: ENST00000520196
  gene symbol: MTUS1
  hgvsc: ENST00000520196.1:c.789A>G
  hgvsp: ENSP00000431016.1:p.Lys264Glu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129422
  ensembl transcript: ENST00000523718
  gene symbol: MTUS1
  hgvsc: ENST00000523718.1:n.2059A>G
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371293
  ensembl transcript: ENST00000381869
  gene symbol: MTUS1
  hgvsc: ENST00000381869.3:c.1585A>G
  hgvsp: ENSP00000371293.3:p.Lys529Glu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000371286
  ensembl transcript: ENST00000381862
  gene symbol: MTUS1
  hgvsc: ENST00000381862.3:c.1585A>G
  hgvsp: ENSP00000371286.3:p.Lys529Glu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000430167
  ensembl transcript: ENST00000519263
  gene symbol: MTUS1
  hgvsc: ENST00000519263.1:c.1585A>G
  hgvsp: ENSP00000430167.1:p.Lys529Glu
  variant of: http://identifiers.org/hgnc/29789
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129422
  ensembl protein: ENSP00000262102
  ensembl transcript: ENST00000262102
  gene symbol: MTUS1
  hgvsc: ENST00000262102.6:c.1585A>G
  hgvsp: ENSP00000262102.6:p.Lys529Glu
  variant of: http://identifiers.org/hgnc/29789
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys529Glu
num of homozygotes: 0
reference allele: T

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

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

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

GenotypeQuality
all individuals: 6670
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5167
bin: 9.75e1
variant carriers: 105

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3429
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.222222222222222e-3
allele num: 900
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: 92
allele frequency: 1.378524978273248e-3
allele num: 66738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 11
allele frequency: 1.663138796492289e-3
allele num: 6614
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.65e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.735096e6

QD
type: SiteQuality
SIO_000300: 1.321e1

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.61e-1

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

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

GenotypeQuality
all individuals: 5187
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2630
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6669
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

East Asian
type: Population
allele count: 25
allele frequency: 2.898214699744957e-3
allele num: 8626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.81e0

QD
type: SiteQuality
SIO_000300: 1.403e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.734469e6

GenotypeQuality
all individuals: 2387
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6668
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993586862057598e-5
allele num: 66738
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.762e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.734357e6

QD
type: SiteQuality
SIO_000300: 1.318e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.69e-1

GenotypeQuality
all individuals: 1000
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6667
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5200
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1136
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37917
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
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: 900
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.060599877576005e-4
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

QD
type: SiteQuality
SIO_000300: 1.37e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.296e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
SIO_000300: 1.734892e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.12e0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2628
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2387
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6667
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.040399918384003e-4
allele num: 9802
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.88e0

QD
type: SiteQuality
SIO_000300: 1.48e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.158e0

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

FS
type: SiteQuality
SIO_000300: 3.258e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

DP
type: SiteQuality
SIO_000300: 1.735105e6

VQSLOD
type: SiteQuality
SIO_000300: 4.9e-1

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2627
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6667
bin: 6.75e1
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: 900
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: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 1.113e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2

DP
type: SiteQuality
SIO_000300: 1.735528e6

QD
type: SiteQuality
SIO_000300: 1.406e1

MQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.84e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.13e-1

GenotypeQuality
all individuals: 1136
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2386
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6666
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3429
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5204
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.455e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.518e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.58e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-1

FS
type: SiteQuality
SIO_000300: 1.104e0

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 1.735597e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.26e-1

GenotypeQuality
all individuals: 6
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2627
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5206
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3429
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.176e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

FS
type: SiteQuality
SIO_000300: 5.23e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

DP
type: SiteQuality
SIO_000300: 1.735922e6

QD
type: SiteQuality
SIO_000300: 1.497e1

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2630
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37887
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2385
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5207
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.143e0

MQRankSum
type: SiteQuality
SIO_000300: -1.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 1.068e0

DP
type: SiteQuality
SIO_000300: 1.735981e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

MQ
type: SiteQuality
SIO_000300: 5.99e1

BaseQRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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European (Non-Finnish)
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allele num: 66738
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Other
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South Asian
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQ
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FS
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BaseQRankSum
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DP
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QD
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 8.263619669455213e-3
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BaseQRankSum
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ClippingRankSum
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DP
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MQRankSum
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MQ
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QD
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InbreedingCoeff
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FS
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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South Asian
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Latino
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African
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allele frequency: 0.0e0
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East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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QD
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MQRankSum
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FS
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MQ
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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variant carriers: 21

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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allele frequency: 0.0e0
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66740
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Other
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DP
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InbreedingCoeff
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QD
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MQRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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FS
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MQ
type: SiteQuality
SIO_000300: 5.974e1

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

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

European (Non-Finnish)
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allele num: 66740
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South Asian
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Latino
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Other
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African
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East Asian
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InbreedingCoeff
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VQSLOD
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QD
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MQ
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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FS
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DP
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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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variant carriers: 0

South Asian
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num of homozygotes: 0

East Asian
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Other
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European (Non-Finnish)
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allele num: 66738
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Latino
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European (Finnish)
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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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QD
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MQ
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InbreedingCoeff
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MQRankSum
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DP
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FS
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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num of homozygotes: 0

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

European (Non-Finnish)
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African
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East Asian
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European (Finnish)
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Latino
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Other
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DP
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VQSLOD
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ClippingRankSum
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MQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeQuality
all individuals: 1002
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2630
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2383
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37812
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5310
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3427
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
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: 900
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.03e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

QD
type: SiteQuality
SIO_000300: 1.392e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.92e0

DP
type: SiteQuality
SIO_000300: 1.750274e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5311
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37808
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6644
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3427
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2383
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.83e-1

QD
type: SiteQuality
SIO_000300: 1.25e1

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.05e-1

DP
type: SiteQuality
SIO_000300: 1.749401e6

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 4.611e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.97e-1

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6644
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37806
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5312
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1002
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.18e-1

DP
type: SiteQuality
SIO_000300: 1.749513e6

VQSLOD
type: SiteQuality
SIO_000300: 5.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
SIO_000300: 5.994e1

FS
type: SiteQuality
SIO_000300: 2.414e0

QD
type: SiteQuality
SIO_000300: 1.514e1

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2632
bin: 7.25e1
variant carriers: 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: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.299e0

VQSLOD
type: SiteQuality
SIO_000300: 9.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.7498e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.541e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3403
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37617
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6616
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2618
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5580
bin: 9.75e1
variant carriers: 283

GenotypeQuality
all individuals: 2373
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 259
allele frequency: 1.568556201550388e-2
allele num: 16512
num of homozygotes: 2

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
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: 2
allele frequency: 2.222222222222222e-3
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.846953759477359e-4
allele num: 66738
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.060599877576005e-4
allele num: 9802
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.84e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.55e0

DP
type: SiteQuality
SIO_000300: 1.785874e6

MQRankSum
type: SiteQuality
SIO_000300: 3.89e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.506e1

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3404
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5562
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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: 11576
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.602e0

DP
type: SiteQuality
SIO_000300: 1.772769e6

MQRankSum
type: SiteQuality
SIO_000300: 1.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

FS
type: SiteQuality
SIO_000300: 8.385999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -9.779e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.322e0

QD
type: SiteQuality
SIO_000300: 1.184e1

GenotypeQuality
all individuals: 1001
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2618
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3404
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37607
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6617
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.080799836768007e-4
allele num: 9802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 900
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.426e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.773743e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.27e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

MQRankSum
type: SiteQuality
SIO_000300: -1.28e-1

QD
type: SiteQuality
SIO_000300: 1.37e1

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37607
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3404
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2619
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2380
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
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: 8626
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.23e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 1.758e0

DP
type: SiteQuality
SIO_000300: 1.773609e6

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.88e-1

QD
type: SiteQuality
SIO_000300: 1.53e1

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

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

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

GenotypeQuality
all individuals: 2618
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5571
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2379
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3403
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.773842e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.03e0

QD
type: SiteQuality
SIO_000300: 1.312e1

FS
type: SiteQuality
SIO_000300: 1.104e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
all individuals: 1002
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2617
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2379
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37601
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 900
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.205e1

VQSLOD
type: SiteQuality
SIO_000300: -1.289e0

FS
type: SiteQuality
SIO_000300: 4.69e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.046e0

DP
type: SiteQuality
SIO_000300: 1.773956e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.49e-1

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37602
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 11576
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

MQ
type: SiteQuality
SIO_000300: 5.995e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.06e-1

DP
type: SiteQuality
SIO_000300: 1.77418e6

FS
type: SiteQuality
SIO_000300: 1.185e0

MQRankSum
type: SiteQuality
SIO_000300: 6.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.212e0

VQSLOD
type: SiteQuality
SIO_000300: 5.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.621e1

GenotypeQuality
all individuals: 1002
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 1134
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.992e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.464e1

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.353e0

VQSLOD
type: SiteQuality
SIO_000300: 6.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

FS
type: SiteQuality
SIO_000300: 2.454e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

DP
type: SiteQuality
SIO_000300: 1.774e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.61e-1

FS
type: SiteQuality
SIO_000300: 1.369e0

DP
type: SiteQuality
SIO_000300: 1.774309e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

QD
type: SiteQuality
SIO_000300: 1.279e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6618
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variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 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: 900
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.040399918384003e-4
allele num: 9802
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.574e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.226e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

VQSLOD
type: SiteQuality
SIO_000300: 8.62e-1

DP
type: SiteQuality
SIO_000300: 1.774444e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.445e1

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

FS
type: SiteQuality
SIO_000300: 2.432e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37585
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1003
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6617
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5575
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2378
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.6e0

MQRankSum
type: SiteQuality
SIO_000300: 9.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.75e-1

QD
type: SiteQuality
SIO_000300: 1.484e1

FS
type: SiteQuality
SIO_000300: 1.942e0

DP
type: SiteQuality
SIO_000300: 1.774385e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.66e-1

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 6497
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variant carriers: 0

GenotypeQuality
all individuals: 2339
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 149
allele frequency: 9.02374031007752e-3
allele num: 16512
num of homozygotes: 5

European (Finnish)
type: Population
allele count: 114
allele frequency: 1.72361657091019e-2
allele num: 6614
num of homozygotes: 2

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 815
allele frequency: 1.221193323144236e-2
allele num: 66738
num of homozygotes: 7

Other
type: Population
allele count: 8
allele frequency: 8.888888888888889e-3
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 17
allele frequency: 1.734339930626403e-3
allele num: 9802
num of homozygotes: 0

Latino
type: Population
allele count: 27
allele frequency: 2.332411886662059e-3
allele num: 11576
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.388e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.995575e6

VQSLOD
type: SiteQuality
SIO_000300: 6.33e0

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.63e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 7
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 6499
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GenotypeQuality
all individuals: 989
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.914975e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.630000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

FS
type: SiteQuality
SIO_000300: 3.833e0

QD
type: SiteQuality
SIO_000300: 1.414e1

GenotypeQuality
all individuals: 988
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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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
all individuals: 6601
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variant carriers: 1

GenotypeQuality
all individuals: 6500
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
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: 900
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.625e0

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.99e-1

ReadPosRankSum
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.914855e6

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 4
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.450581395348837e-4
allele num: 16512
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.06e0

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

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 7.85e-1

DP
type: SiteQuality
SIO_000300: 1.915863e6

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 900
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

VQSLOD
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.91553e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.758e0

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: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1118
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

South Asian
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allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-2

QD
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SIO_000300: 1.234e1

DP
type: SiteQuality
SIO_000300: 1.915888e6

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

FS
type: SiteQuality
SIO_000300: 2.48e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 9.73e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.499e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e-1

DP
type: SiteQuality
SIO_000300: 1.915938e6

VQSLOD
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SIO_000300: 5.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.041e1

MQRankSum
type: SiteQuality
SIO_000300: 6.64e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
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: 11576
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.916135e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.256e0

MQRankSum
type: SiteQuality
SIO_000300: -1.428e0

FS
type: SiteQuality
SIO_000300: 5.620000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.987e1

VQSLOD
type: SiteQuality
SIO_000300: -2.095e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.077e0

QD
type: SiteQuality
SIO_000300: 1.071e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.13e-1

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: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 3
allele frequency: 1.816860465116279e-4
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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.26e-1

QD
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SIO_000300: 1.248e1

FS
type: SiteQuality
SIO_000300: 2.455e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.25e-1

DP
type: SiteQuality
SIO_000300: 1.916529e6

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 2344
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
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

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.15e-1

FS
type: SiteQuality
SIO_000300: 1.732e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.916979e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.303e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.916979e6

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

FS
type: SiteQuality
SIO_000300: 1.732e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.53e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
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: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.63e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.096e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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 count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.27e-1

MQRankSum
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
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QD
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InbreedingCoeff
type: SiteQuality
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.020616452337212e-4
allele num: 9798
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

South Asian
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num of homozygotes: 0

East Asian
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allele count: 0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
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ClippingRankSum
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QD
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FS
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

MQRankSum
type: SiteQuality
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DP
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 2.040816326530612e-4
allele num: 9800
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

South Asian
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East Asian
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Other
type: Population
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allele num: 900
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MQ
type: SiteQuality
SIO_000300: 5.988e1

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

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

South Asian
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allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.492e1

FS
type: SiteQuality
SIO_000300: 1.73e0

VQSLOD
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SIO_000300: 2.41e0

ClippingRankSum
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SIO_000300: 5.85e-1

DP
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SIO_000300: 1.918442e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
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)
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allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

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 count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.399e1

ReadPosRankSum
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SIO_000300: 1.04e0

MQRankSum
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SIO_000300: 1.72e0

VQSLOD
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SIO_000300: 2.15e-1

BaseQRankSum
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SIO_000300: 8.44e-1

InbreedingCoeff
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SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.47e-1

FS
type: SiteQuality
SIO_000300: 3.364e0

DP
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SIO_000300: 1.918359e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996973057212216e-5
allele num: 66734
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.020408163265306e-4
allele num: 9800
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: 11576
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
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: 8626
num of homozygotes: 0

DP
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
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BaseQRankSum
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SIO_000300: -2.163e0

MQRankSum
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SIO_000300: -3.77e-1

MQ
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SIO_000300: 5.986e1

FS
type: SiteQuality
SIO_000300: 1.74e0

QD
type: SiteQuality
SIO_000300: 1.541e1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 12

GenotypeQuality
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bin: 8.75e1
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: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.798183834327329e-4
allele num: 66734
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9800
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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

ClippingRankSum
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SIO_000300: -2.3e-1

FS
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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VQSLOD
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MQ
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SIO_000300: 5.966e1

InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.09e-1

DP
type: SiteQuality
SIO_000300: 1.921084e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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: 6614
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.775e1

QD
type: SiteQuality
SIO_000300: 1.137e1

MQRankSum
type: SiteQuality
SIO_000300: -2.243e0

ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 5.28e-1

InbreedingCoeff
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SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

VQSLOD
type: SiteQuality
SIO_000300: 5.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.85e-1

DP
type: SiteQuality
SIO_000300: 1.920424e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 8626
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

MQRankSum
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SIO_000300: 9.1e-2

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
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MQ
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 2.99e-1

BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.697e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.39e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
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FS
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BaseQRankSum
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DP
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.96e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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: 898
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.027e0

MQ
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 8

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
type: Population
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allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.49243264303054e-5
allele num: 66734
num of homozygotes: 0

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

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

East Asian
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num of homozygotes: 0

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

European (Finnish)
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allele num: 6614
num of homozygotes: 0

East Asian
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num of homozygotes: 0

Other
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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QD
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ReadPosRankSum
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DP
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2348
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36833
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e0

MQRankSum
type: SiteQuality
SIO_000300: -9.55e-1

DP
type: SiteQuality
SIO_000300: 1.921984e6

VQSLOD
type: SiteQuality
SIO_000300: -7.13e-2

QD
type: SiteQuality
SIO_000300: 1.231e1

MQ
type: SiteQuality
SIO_000300: 5.984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 4.173e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.772e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.137e0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.49243264303054e-5
allele num: 66734
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: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.92292e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.566e0

FS
type: SiteQuality
SIO_000300: 1.757e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.85e-1

QD
type: SiteQuality
SIO_000300: 1.238e1

MQ
type: SiteQuality
SIO_000300: 5.915e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.92292e6

FS
type: SiteQuality
SIO_000300: 1.757e0

VQSLOD
type: SiteQuality
SIO_000300: 7.85e-1

QD
type: SiteQuality
SIO_000300: 1.238e1

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.566e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.174e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.31e0

VQSLOD
type: SiteQuality
SIO_000300: -1.618e0

FS
type: SiteQuality
SIO_000300: 8.808999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-1

QD
type: SiteQuality
SIO_000300: 1.435e1

DP
type: SiteQuality
SIO_000300: 1.922888e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.415e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1117
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e0

DP
type: SiteQuality
SIO_000300: 1.922965e6

QD
type: SiteQuality
SIO_000300: 1.23e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.737e0

FS
type: SiteQuality
SIO_000300: 4.501e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.601e0

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.75e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6661
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1118
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.915e0

DP
type: SiteQuality
SIO_000300: 1.923579e6

FS
type: SiteQuality
SIO_000300: 2.475e0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 1.292e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.26e-1

MQ
type: SiteQuality
SIO_000300: 5.99e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 6662
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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
type: SiteQuality
SIO_000300: 1.491e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 5.923e1

DP
type: SiteQuality
SIO_000300: 1.923655e6

FS
type: SiteQuality
SIO_000300: 4.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.91e0

VQSLOD
type: SiteQuality
SIO_000300: -4.483e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.583e0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.361e0

FS
type: SiteQuality
SIO_000300: 1.623e0

DP
type: SiteQuality
SIO_000300: 1.923906e6

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

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

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: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.63e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

FS
type: SiteQuality
SIO_000300: 1.032e0

InbreedingCoeff
type: SiteQuality
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QD
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.924092e6

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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
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allele frequency: 0.0e0
allele num: 900
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

BaseQRankSum
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SIO_000300: -4.878e0

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.53e-1

DP
type: SiteQuality
SIO_000300: 1.924303e6

VQSLOD
type: SiteQuality
SIO_000300: 3.3e-1

FS
type: SiteQuality
SIO_000300: 7.386e0

QD
type: SiteQuality
SIO_000300: 1.308e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6670
bin: 9.75e1
variant carriers: 2

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

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

African
type: Population
allele count: 1
allele frequency: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 1.285e1

MQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 1.155e0

DP
type: SiteQuality
SIO_000300: 1.924399e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

GenotypeQuality
all individuals: 1118
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3344
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6504
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6672
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 990
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2570
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2344
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 2
allele frequency: 2.040816326530612e-4
allele num: 9800
num of homozygotes: 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: 6614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.392e1

MQ
type: SiteQuality
SIO_000300: 5.984e1

DP
type: SiteQuality
SIO_000300: 1.924999e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.987e0

FS
type: SiteQuality
SIO_000300: 5.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

GenotypeQuality
all individuals: 1118
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6673
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 6503
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3344
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

FS
type: SiteQuality
SIO_000300: 4.369e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

DP
type: SiteQuality
SIO_000300: 1.924937e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.03e-1

QD
type: SiteQuality
SIO_000300: 1.299e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0