16-8904948-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8904948
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8904948
    reference: chr 16
allele count: 1
allele frequency: 3.649901452660778e-5
allele num: 27398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*82T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.279T>C
  hgvsp: ENST00000566983.1:c.279T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-547T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-547T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.-16T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.191T>C
  hgvsp: ENSP00000457932.1:p.Leu64Ser
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3528T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.331T>C
  hgvsp: ENST00000564069.1:c.331T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.360T>C
  hgvsp: ENST00000268261.4:c.360T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*158T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.111T>C
  hgvsp: ENST00000539622.1:c.111T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-551T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455066
  ensembl transcript: ENST00000568602
  gene symbol: PMM2
  hgvsc: ENST00000568602.1:c.*213T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-547T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-547T>C
  variant of: http://identifiers.org/hgnc/9115
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu64Ser
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

16-8904954-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8904954
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8904954
    reference: chr 16
allele count: 29
allele frequency: 1.024373013069587e-3
allele num: 28310
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.366C>T
  hgvsp: ENST00000268261.4:c.366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-541C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.117C>T
  hgvsp: ENST00000539622.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.285C>T
  hgvsp: ENST00000566983.1:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*88C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.337C>T
  hgvsp: ENST00000564069.1:c.337C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-541C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-545C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3534C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455066
  ensembl transcript: ENST00000568602
  gene symbol: PMM2
  hgvsc: ENST00000568602.1:c.*219C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-541C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-541C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*164C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.197C>T
  hgvsp: ENSP00000457932.1:p.Ser66Phe
  variant of: http://identifiers.org/hgnc/9115
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17603
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser66Phe
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

16-8904955-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8904955
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8904955
    reference: chr 16
allele count: 1
allele frequency: 3.510989396812022e-5
allele num: 28482
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455066
  ensembl transcript: ENST00000568602
  gene symbol: PMM2
  hgvsc: ENST00000568602.1:c.*220C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-540C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.198C>T
  hgvsp: ENST00000565221.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-540C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.338C>T
  hgvsp: ENSP00000455320.1:p.Arg114Ter
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-540C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.286C>T
  hgvsp: ENSP00000457956.1:p.Arg96Ter
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.367C>T
  hgvsp: ENSP00000268261.4:p.Arg123Ter
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*89C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*165C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.118C>T
  hgvsp: ENSP00000445879.1:p.Arg40Ter
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.-9C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-544C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3535C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-540C>T
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27023
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg123Ter
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS

16-8904956-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8904956
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8904956
    reference: chr 16
allele count: 3
allele frequency: 1.043478260869565e-4
allele num: 28750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*166G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-539G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.199G>A
  hgvsp: ENSP00000457932.1:p.Glu67Lys
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-539G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455066
  ensembl transcript: ENST00000568602
  gene symbol: PMM2
  hgvsc: ENST00000568602.1:c.*221G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.368G>A
  hgvsp: ENSP00000268261.4:p.Arg123Gln
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-539G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.119G>A
  hgvsp: ENSP00000445879.1:p.Arg40Gln
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*90G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.287G>A
  hgvsp: ENSP00000457956.1:p.Arg96Gln
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.339G>A
  hgvsp: ENSP00000455320.1:p.Arg114Gln
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-543G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3536G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-539G>A
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16951
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg123Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum

16-8904956-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8904956
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8904956
    reference: chr 16
allele count: 1
allele frequency: 3.478260869565217e-5
allele num: 28750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3536G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.199G>T
  hgvsp: ENSP00000457932.1:p.Glu67Ter
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*90G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-539G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.368G>T
  hgvsp: ENSP00000268261.4:p.Arg123Leu
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455066
  ensembl transcript: ENST00000568602
  gene symbol: PMM2
  hgvsc: ENST00000568602.1:c.*221G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.-8G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*166G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-543G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.287G>T
  hgvsp: ENSP00000457956.1:p.Arg96Leu
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.119G>T
  hgvsp: ENSP00000445879.1:p.Arg40Leu
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-539G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-539G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.339G>T
  hgvsp: ENSP00000455320.1:p.Arg114Leu
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-539G>T
  variant of: http://identifiers.org/hgnc/9115
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16951
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27274
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu67Ter
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

16-8904972-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8904972
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8904972
    reference: chr 16
allele count: 2
allele frequency: 6.405739542630197e-5
allele num: 31222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.9C>T
  hgvsp: ENST00000537352.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.384C>T
  hgvsp: ENST00000268261.4:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*2C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*182C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.135C>T
  hgvsp: ENST00000539622.1:c.135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.303C>T
  hgvsp: ENST00000566983.1:c.303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-527C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.355C>T
  hgvsp: ENST00000564069.1:c.355C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-523C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*106C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-523C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3552C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-523C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-523C>T
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn128Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

16-8904973-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8904973
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8904973
    reference: chr 16
allele count: 1
allele frequency: 3.182686187141948e-5
allele num: 31420
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.136G>A
  hgvsp: ENSP00000445879.1:p.Val46Met
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-526G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3553G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.385G>A
  hgvsp: ENSP00000268261.4:p.Val129Met
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*3G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-522G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-522G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.304G>A
  hgvsp: ENSP00000457956.1:p.Val102Met
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-522G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*183G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.356G>A
  hgvsp: ENSP00000455320.1:p.Val120Met
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.10G>A
  hgvsp: ENSP00000438359.1:p.Val4Met
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*107G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-522G>A
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val129Met
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

16-8904978-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8904978
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8904978
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 31784
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.141C>G
  hgvsp: ENST00000539622.1:c.141C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-517C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.15C>G
  hgvsp: ENST00000537352.1:c.15C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.390C>G
  hgvsp: ENST00000268261.4:c.390C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*112C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.309C>G
  hgvsp: ENST00000566983.1:c.309C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*188C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3558C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-517C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.361C>G
  hgvsp: ENST00000564069.1:c.361C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*8C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-517C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-517C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-521C>G
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 14216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28905
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser130Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

16-8904982-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8904982
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8904982
    reference: chr 16
allele count: 1
allele frequency: 3.111387678904791e-5
allele num: 32140
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.365A>G
  hgvsp: ENSP00000455320.1:p.Ile123Val
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*116A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3562A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-513A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-513A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*192A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.145A>G
  hgvsp: ENSP00000445879.1:p.Ile49Val
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*12A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-513A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.394A>G
  hgvsp: ENSP00000268261.4:p.Ile132Val
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.313A>G
  hgvsp: ENSP00000457956.1:p.Ile105Val
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.19A>G
  hgvsp: ENSP00000438359.1:p.Ile7Val
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-513A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-517A>G
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile132Val
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

16-8904982-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8904982
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8904982
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 32140
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.313A>T
  hgvsp: ENSP00000457956.1:p.Ile105Phe
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.365A>T
  hgvsp: ENSP00000455320.1:p.Ile123Phe
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*116A>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*12A>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-517A>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3562A>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-513A>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-513A>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.394A>T
  hgvsp: ENSP00000268261.4:p.Ile132Phe
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.19A>T
  hgvsp: ENSP00000438359.1:p.Ile7Phe
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*192A>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-513A>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-513A>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.145A>T
  hgvsp: ENSP00000445879.1:p.Ile49Phe
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile132Phe
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS

16-8904983-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8904983
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8904983
    reference: chr 16
allele count: 1
allele frequency: 3.101159833777833e-5
allele num: 32246
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-516T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*117T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-512T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.20T>C
  hgvsp: ENSP00000438359.1:p.Ile7Thr
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-512T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-512T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.314T>C
  hgvsp: ENSP00000457956.1:p.Ile105Thr
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-512T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*13T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.146T>C
  hgvsp: ENSP00000445879.1:p.Ile49Thr
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.395T>C
  hgvsp: ENSP00000268261.4:p.Ile132Thr
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.366T>C
  hgvsp: ENSP00000455320.1:p.Ile123Thr
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3563T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*193T>C
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile132Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

16-8904984-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8904984
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8904984
    reference: chr 16
allele count: 1
allele frequency: 3.103854987894966e-5
allele num: 32218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-511T>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.147T>A
  hgvsp: ENST00000539622.1:c.147T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-511T>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-511T>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3564T>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*194T>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-515T>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.21T>A
  hgvsp: ENST00000537352.1:c.21T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.367T>A
  hgvsp: ENST00000564069.1:c.367T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*14T>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.396T>A
  hgvsp: ENST00000268261.4:c.396T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*118T>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.315T>A
  hgvsp: ENST00000566983.1:c.315T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-511T>A
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile132Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-8904993-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8904993
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8904993
    reference: chr 16
allele count: 1
allele frequency: 3.082234003205523e-5
allele num: 32444
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.324C>A
  hgvsp: ENSP00000457956.1:p.Ser108Arg
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.376C>A
  hgvsp: ENSP00000455320.1:p.Ser126Arg
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-506C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-502C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.405C>A
  hgvsp: ENSP00000268261.4:p.Ser135Arg
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.156C>A
  hgvsp: ENSP00000445879.1:p.Ser52Arg
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-502C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*23C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3573C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*127C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.30C>A
  hgvsp: ENSP00000438359.1:p.Ser10Arg
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-502C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*203C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-502C>A
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14722
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser135Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum

16-8904996-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8904996
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8904996
    reference: chr 16
allele count: 4
allele frequency: 1.231375446373599e-4
allele num: 32484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-499C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*130C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.408C>T
  hgvsp: ENST00000268261.4:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3576C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.159C>T
  hgvsp: ENST00000539622.1:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-499C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*26C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*206C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.379C>T
  hgvsp: ENST00000564069.1:c.379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.33C>T
  hgvsp: ENST00000537352.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-499C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.327C>T
  hgvsp: ENST00000566983.1:c.327C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-499C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-503C>T
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15006
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27649
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Cys136Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

16-8905000-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905000
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905000
    reference: chr 16
allele count: 5
allele frequency: 1.540737088623197e-4
allele num: 32452
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-495C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*134C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.412C>G
  hgvsp: ENSP00000268261.4:p.Gln138Glu
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.383C>G
  hgvsp: ENSP00000455320.1:p.Gln129Glu
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-495C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*30C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.163C>G
  hgvsp: ENSP00000445879.1:p.Gln55Glu
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*210C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.331C>G
  hgvsp: ENSP00000457956.1:p.Gln111Glu
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-499C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.37C>G
  hgvsp: ENSP00000438359.1:p.Gln13Glu
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-495C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3580C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-495C>G
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15688
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26870
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Gln138Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-8905000-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905000
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8904999
    reference: chr 16
allele count: 1
allele frequency: 3.081474177246395e-5
allele num: 32452
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.385delA
  hgvsp: ENSP00000455320.1:p.Glu130LysfsTer41
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*136delA
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.333delA
  hgvsp: ENSP00000457956.1:p.Glu112LysfsTer15
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-493delA
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-493delA
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.414delA
  hgvsp: ENSP00000268261.4:p.Glu139LysfsTer15
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.165delA
  hgvsp: ENSP00000445879.1:p.Glu56LysfsTer15
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*32delA
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.39delA
  hgvsp: ENSP00000438359.1:p.Glu14LysfsTer15
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-493delA
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-493delA
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*212delA
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3582delA
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-497delA
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu139LysfsTer15
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: CA
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum

16-8905002-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905002
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905002
    reference: chr 16
allele count: 1
allele frequency: 3.08546744831842e-5
allele num: 32410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-497A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.385A>G
  hgvsp: ENST00000564069.1:c.385A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*212A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*136A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*32A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-493A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.333A>G
  hgvsp: ENST00000566983.1:c.333A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.165A>G
  hgvsp: ENST00000539622.1:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-493A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-493A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3582A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-493A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.39A>G
  hgvsp: ENST00000537352.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.414A>G
  hgvsp: ENST00000268261.4:c.414A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26467
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln138Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

16-8905002-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905002
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905001
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 32410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-492delG
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.415delG
  hgvsp: ENSP00000268261.4:p.Glu139LysfsTer15
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.166delG
  hgvsp: ENSP00000445879.1:p.Glu56LysfsTer15
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-496delG
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-492delG
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3583delG
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.40delG
  hgvsp: ENSP00000438359.1:p.Glu14LysfsTer15
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*33delG
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-492delG
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.386delG
  hgvsp: ENSP00000455320.1:p.Glu130LysfsTer41
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.334delG
  hgvsp: ENSP00000457956.1:p.Glu112LysfsTer15
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*137delG
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-492delG
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*213delG
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: frameshift
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26467
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu139LysfsTer15
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: AG
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

16-8905009-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905009
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905009
    reference: chr 16
allele count: 3
allele frequency: 9.333001493280239e-5
allele num: 32144
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.421C>T
  hgvsp: ENSP00000268261.4:p.Arg141Cys
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.340C>T
  hgvsp: ENSP00000457956.1:p.Arg114Cys
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.392C>T
  hgvsp: ENSP00000455320.1:p.Arg132Cys
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3589C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.172C>T
  hgvsp: ENSP00000445879.1:p.Arg58Cys
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.46C>T
  hgvsp: ENSP00000438359.1:p.Arg16Cys
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-486C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*219C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*39C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-486C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-486C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-490C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*143C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-486C>T
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25321
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg141Cys
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

16-8905010-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905010
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905010
    reference: chr 16
allele count: 213
allele frequency: 6.603422619047619e-3
allele num: 32256
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*40G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.393G>A
  hgvsp: ENSP00000455320.1:p.Arg132His
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.173G>A
  hgvsp: ENSP00000445879.1:p.Arg58His
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-485G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*144G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.47G>A
  hgvsp: ENSP00000438359.1:p.Arg16His
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.422G>A
  hgvsp: ENSP00000268261.4:p.Arg141His
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-485G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-485G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-489G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*220G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-485G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3590G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.341G>A
  hgvsp: ENSP00000457956.1:p.Arg114His
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 1.25e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Arg141His
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

16-8905014-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905014
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905014
    reference: chr 16
allele count: 2
allele frequency: 6.26017278076875e-5
allele num: 31948
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.51T>G
  hgvsp: ENSP00000438359.1:p.Ile17Met
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*224T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-485T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-481T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.397T>G
  hgvsp: ENSP00000455320.1:p.Ile133Met
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3594T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.345T>G
  hgvsp: ENSP00000457956.1:p.Ile115Met
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*44T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-481T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.177T>G
  hgvsp: ENSP00000445879.1:p.Ile59Met
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-481T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-481T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*148T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.426T>G
  hgvsp: ENSP00000268261.4:p.Ile142Met
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23698
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18630
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile142Met
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

16-8905018-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905018
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905018
    reference: chr 16
allele count: 12
allele frequency: 3.800595426616837e-4
allele num: 31574
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3598T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*228T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-477T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.181T>C
  hgvsp: ENSP00000445879.1:p.Phe61Leu
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*152T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-477T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.55T>C
  hgvsp: ENSP00000438359.1:p.Phe19Leu
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*48T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-477T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.401T>C
  hgvsp: ENSP00000455320.1:p.Phe135Leu
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.349T>C
  hgvsp: ENSP00000457956.1:p.Phe117Leu
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.430T>C
  hgvsp: ENSP00000268261.4:p.Phe144Leu
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-477T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-481T>C
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22118
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe144Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

16-8905022-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905022
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905022
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 31082
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-473A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-473A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-473A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.405A>G
  hgvsp: ENSP00000455320.1:p.Tyr136Cys
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3602A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*156A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.59A>G
  hgvsp: ENSP00000438359.1:p.Tyr20Cys
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.434A>G
  hgvsp: ENSP00000268261.4:p.Tyr145Cys
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.185A>G
  hgvsp: ENSP00000445879.1:p.Tyr62Cys
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-477A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*232A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-473A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.353A>G
  hgvsp: ENSP00000457956.1:p.Tyr118Cys
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*52A>G
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20778
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr145Cys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/16-8905023-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905023
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905023
    reference: chr 16
allele count: 1
allele frequency: 3.238341968911917e-5
allele num: 30880
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-472C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.354C>A
  hgvsp: ENSP00000457956.1:p.Tyr118Ter
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-476C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-472C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-472C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.60C>A
  hgvsp: ENSP00000438359.1:p.Tyr20Ter
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*233C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.186C>A
  hgvsp: ENSP00000445879.1:p.Tyr62Ter
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-472C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*157C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.435C>A
  hgvsp: ENSP00000268261.4:p.Tyr145Ter
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3603C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*53C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.406C>A
  hgvsp: ENSP00000455320.1:p.Tyr136Ter
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21484
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr145Ter
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

16-8905023-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905023
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905023
    reference: chr 16
allele count: 2
allele frequency: 6.476683937823834e-5
allele num: 30880
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.354C>T
  hgvsp: ENST00000566983.1:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.60C>T
  hgvsp: ENST00000537352.1:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-472C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-476C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3603C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-472C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*157C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.435C>T
  hgvsp: ENST00000268261.4:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-472C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.186C>T
  hgvsp: ENST00000539622.1:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-472C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*233C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.406C>T
  hgvsp: ENST00000564069.1:c.406C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*53C>T
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20417
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr145Tyr
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

16-8905024-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905024
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905024
    reference: chr 16
allele count: 2
allele frequency: 6.498148027812073e-5
allele num: 30778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*158G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*234G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.407G>A
  hgvsp: ENSP00000455320.1:p.Glu137Lys
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*54G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-475G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.355G>A
  hgvsp: ENSP00000457956.1:p.Glu119Lys
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3604G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.436G>A
  hgvsp: ENSP00000268261.4:p.Glu146Lys
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.187G>A
  hgvsp: ENSP00000445879.1:p.Glu63Lys
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-471G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.61G>A
  hgvsp: ENSP00000438359.1:p.Glu21Lys
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-471G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-471G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-471G>A
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21800
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu146Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS

16-8905029-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905029
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905029
    reference: chr 16
allele count: 16
allele frequency: 5.441436539246361e-4
allele num: 29404
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.192C>T
  hgvsp: ENST00000539622.1:c.192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-470C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.66C>T
  hgvsp: ENST00000537352.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*239C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-466C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3609C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-466C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.412C>T
  hgvsp: ENST00000564069.1:c.412C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.360C>T
  hgvsp: ENST00000566983.1:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.441C>T
  hgvsp: ENST00000268261.4:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-466C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*163C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*59C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-466C>T
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu147Leu
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

16-8905030-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905030
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905030
    reference: chr 16
allele count: 6
allele frequency: 2.037766607797853e-4
allele num: 29444
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*60G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.413G>A
  hgvsp: ENSP00000455320.1:p.Asp139Asn
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-469G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.361G>A
  hgvsp: ENSP00000457956.1:p.Asp121Asn
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-465G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-465G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3610G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.442G>A
  hgvsp: ENSP00000268261.4:p.Asp148Asn
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.67G>A
  hgvsp: ENSP00000438359.1:p.Asp23Asn
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*240G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-465G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.193G>A
  hgvsp: ENSP00000445879.1:p.Asp65Asn
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*164G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-465G>A
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17978
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23566
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp148Asn
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

16-8905033-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905033
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905033
    reference: chr 16
allele count: 1
allele frequency: 3.41740140796938e-5
allele num: 29262
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-466A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.196A>G
  hgvsp: ENSP00000445879.1:p.Lys66Glu
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-462A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.416A>G
  hgvsp: ENSP00000455320.1:p.Lys140Glu
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.70A>G
  hgvsp: ENSP00000438359.1:p.Lys24Glu
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*167A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-462A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3613A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*243A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*63A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.364A>G
  hgvsp: ENSP00000457956.1:p.Lys122Glu
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.445A>G
  hgvsp: ENSP00000268261.4:p.Lys149Glu
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-462A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-462A>G
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23981
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys149Glu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-8905039-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905039
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905039
    reference: chr 16
allele count: 4
allele frequency: 1.419647927314026e-4
allele num: 28176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.418+4C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.72+4C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-456C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-456C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.198+4C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3615+4C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*245+4C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-460C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-456C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.447+4C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-456C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*65+4C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*169+4C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.366+4C>T
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24485
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16456
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.447+4C>T
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/16-8905046-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905046
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905046
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 27050
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-449C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-449C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*169+11C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.418+11C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-449C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-453C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.198+11C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.447+11C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-449C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.72+11C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.366+11C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*65+11C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3615+11C>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*245+11C>A
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ

16-8905054-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905054
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905054
    reference: chr 16
allele count: 12775
allele frequency: 4.653577152848609e-1
allele num: 27452
alternate allele: C
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.447+19T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-445T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.366+19T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-441T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.198+19T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*169+19T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*65+19T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*245+19T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-441T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-441T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.72+19T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.418+19T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3615+19T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-441T>C
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17906
  bin: 2.5e0
  variant carriers: 5021
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 3.75e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 2.25e1
  variant carriers: 343
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 1.25e1
  variant carriers: 1954
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.75e1
  variant carriers: 216
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.75e1
  variant carriers: 232
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 2.75e1
  variant carriers: 214
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.25e1
  variant carriers: 216
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 179
genotype quality: GenotypeQuality
num of homozygotes: 2952
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

16-8905057-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905057
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905057
    reference: chr 16
allele count: 119
allele frequency: 4.844093462509159e-3
allele num: 24566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.418+22T>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-438T>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.198+22T>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.366+22T>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-442T>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-438T>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.447+22T>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*65+22T>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-438T>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.72+22T>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3615+22T>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-438T>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*245+22T>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*169+22T>A
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 9.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7844
  bin: 7.5e0
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 30860
  bin: 2.5e0
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 1.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

16-8905057-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905057
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905057
    reference: chr 16
allele count: 2
allele frequency: 8.141333550435561e-5
allele num: 24566
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3615+22T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*65+22T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-438T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-438T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.198+22T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.447+22T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-438T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.418+22T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-438T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*169+22T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-442T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.366+22T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.72+22T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*245+22T>G
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

16-8905059-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905059
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905059
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 24300
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.447+24G>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-436G>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*65+24G>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-436G>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-440G>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*245+24G>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3615+24G>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-436G>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-436G>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.418+24G>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*169+24G>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.198+24G>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.366+24G>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.72+24G>C
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7437
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

16-8905059-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905059
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905059
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 24300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.366+24G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.198+24G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-440G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-436G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.447+24G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*169+24G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-436G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-436G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3615+24G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*65+24G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*245+24G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-436G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.72+24G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.418+24G>T
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31168
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: G
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

16-8905071-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905071
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905071
    reference: chr 16
allele count: 3
allele frequency: 1.302535602639805e-4
allele num: 23032
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.447+36G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.418+36G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-424G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*245+36G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.72+36G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-424G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.198+36G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-424G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3615+36G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-428G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-424G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*65+36G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*169+36G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.366+36G>T
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30931
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

16-8905078-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905078
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905078
    reference: chr 16
allele count: 1
allele frequency: 4.410337831877922e-5
allele num: 22674
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.447+43G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.366+43G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-421G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.72+43G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-417G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-417G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.198+43G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.418+43G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*245+43G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*65+43G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-417G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-417G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*169+43G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3615+43G>A
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30543
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum

16-8905087-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905087
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905087
    reference: chr 16
allele count: 2
allele frequency: 8.949346697691069e-5
allele num: 22348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3615+52A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.366+52A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.198+52A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-408A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*65+52A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-408A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-408A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.418+52A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.447+52A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.72+52A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-408A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*169+52A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*245+52A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-412A>G
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

16-8905444-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905444
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905444
    reference: chr 16
allele count: 1
allele frequency: 8.531112968997936e-6
allele num: 117218
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-55C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-51C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*170-51C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.73-51C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.419-55C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-51C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-51C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*66-51C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*246-51C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.448-51C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3616-51C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.367-51C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.199-51C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-51C>G
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12985
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

16-8905454-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905454
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905454
    reference: chr 16
allele count: 12
allele frequency: 1.019991840065279e-4
allele num: 117648
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.73-41T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.367-41T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*66-41T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.199-41T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-41T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-41T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.448-41T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-45T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*170-41T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-41T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-41T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*246-41T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.419-45T>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3616-41T>G
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17950
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10625
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/16-8905457-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905457
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905457
    reference: chr 16
allele count: 1
allele frequency: 8.492569002123141e-6
allele num: 117750
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.448-38A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.73-38A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*66-38A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-42A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*246-38A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-38A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3616-38A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.419-42A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*170-38A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.199-38A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-38A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.367-38A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-38A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-38A>C
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19462
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/16-8905458-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905458
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905458
    reference: chr 16
allele count: 1
allele frequency: 8.491559389966374e-6
allele num: 117764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.419-41A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.73-37A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*246-37A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-37A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*66-37A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.367-37A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3616-37A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-37A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.199-37A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-37A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-37A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*170-37A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-41A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.448-37A>C
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19957
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

16-8905460-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905460
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905460
    reference: chr 16
allele count: 1
allele frequency: 8.489829184636805e-6
allele num: 117788
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-39A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-35A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.419-39A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.199-35A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.448-35A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-35A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-35A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*246-35A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-35A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*170-35A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3616-35A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.367-35A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.73-35A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*66-35A>G
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20873
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

16-8905461-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905461
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905461
    reference: chr 16
allele count: 1
allele frequency: 8.487955591016347e-6
allele num: 117814
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.73-34C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-34C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*170-34C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-34C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-34C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3616-34C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-38C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.419-38C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.448-34C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.367-34C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-34C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*246-34C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.199-34C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*66-34C>T
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

16-8905462-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905462
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905462
    reference: chr 16
allele count: 1
allele frequency: 8.477593719798572e-6
allele num: 117958
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-33A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3616-33A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-33A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.73-33A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.448-33A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*246-33A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-37A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.199-33A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.419-37A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*66-33A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.367-33A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*170-33A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-33A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-33A>G
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-8905465-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905465
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905465
    reference: chr 16
allele count: 89
allele frequency: 7.530502766825174e-4
allele num: 118186
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*170-30A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.199-30A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.73-30A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.448-30A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-30A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*246-30A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.367-30A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-34A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.419-34A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3616-30A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-30A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*66-30A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-30A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-30A>C
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 11978
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

16-8905469-AATTGGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905469
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905463
    reference: chr 16
allele count: 2
allele frequency: 1.685289111347052e-5
allele num: 118674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.73-23_73-18delTGGTAT
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-23_*70-18delTGGTAT
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*66-23_*66-18delTGGTAT
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-23_*70-18delTGGTAT
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.419-27_419-22delTGGTAT
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.199-23_199-18delTGGTAT
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-27_179-22delTGGTAT
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-23_179-18delTGGTAT
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3616-23_3616-18delTGGTAT
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-23_348-18delTGGTAT
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.367-23_367-18delTGGTAT
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*246-23_*246-18delTGGTAT
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*170-23_*170-18delTGGTAT
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.448-23_448-18delTGGTAT
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: AATTGGT
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

16-8905470-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905470
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905470
    reference: chr 16
allele count: 1
allele frequency: 8.418075291265404e-6
allele num: 118792
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-29A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3616-25A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*170-25A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.419-29A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-25A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.367-25A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-25A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-25A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*246-25A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.73-25A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.448-25A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-25A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*66-25A>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.199-25A>G
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

16-8905471-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905471
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905471
    reference: chr 16
allele count: 2
allele frequency: 1.682850074886828e-5
allele num: 118846
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-24T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*66-24T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3616-24T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-28T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.73-24T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.199-24T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.419-28T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.367-24T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.448-24T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-24T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*170-24T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-24T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*246-24T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-24T>C
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24911
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12548
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

16-8905473-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905473
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905473
    reference: chr 16
allele count: 1
allele frequency: 8.400114241553686e-6
allele num: 119046
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.199-22G>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-22G>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.73-22G>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-22G>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*66-22G>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-22G>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-22G>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.448-22G>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3616-22G>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-26G>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.367-22G>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*246-22G>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.419-26G>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*170-22G>C
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

16-8905494-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905494
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905494
    reference: chr 16
allele count: 1
allele frequency: 8.277186418792524e-6
allele num: 120814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70-1G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*66-1G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.448-1G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.73-1G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*246-1G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-5G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.367-1G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.419-5G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3616-1G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.199-1G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70-1G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179-1G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348-1G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*170-1G>A
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.448-1G>A
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

16-8905495-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905495
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905495
    reference: chr 16
allele count: 1
allele frequency: 8.273625337150233e-6
allele num: 120866
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3616A>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*170A>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*70A>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*70A>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*246A>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*66A>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.448A>T
  hgvsp: ENSP00000268261.4:p.Lys150Ter
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.199A>T
  hgvsp: ENSP00000445879.1:p.Lys67Ter
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.179-4A>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.73A>T
  hgvsp: ENSP00000438359.1:p.Lys25Ter
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.419-4A>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.367A>T
  hgvsp: ENSP00000457956.1:p.Lys123Ter
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.348A>T
  hgvsp: ENSP00000456774.1:p.Arg116Ser
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.179A>T
  hgvsp: ENSP00000456961.1:p.Glu60Val
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13834
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys150Ter
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

16-8905498-GAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905498
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905496
    reference: chr 16
allele count: 1
allele frequency: 8.266922390132602e-6
allele num: 120964
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.181_182delAA
  hgvsp: ENSP00000456302.1:p.Asn61TyrfsTer29
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*252_*253delAA
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.373_374delAA
  hgvsp: ENSP00000457956.1:p.Asn125TyrfsTer29
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.205_206delAA
  hgvsp: ENSP00000445879.1:p.Asn69TyrfsTer29
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*76_*77delAA
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3622_3623delAA
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.79_80delAA
  hgvsp: ENSP00000438359.1:p.Asn27TyrfsTer29
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.354_355delAA
  hgvsp: ENSP00000456774.1:p.Lys118AsnfsTer96
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.454_455delAA
  hgvsp: ENSP00000268261.4:p.Asn152TyrfsTer29
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.185_186delAA
  hgvsp: ENSP00000456961.1:p.Lys62IlefsTer2
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.421_422delAA
  hgvsp: ENSP00000455320.1:p.Lys141AsnfsTer?
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*72_*73delAA
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*176_*177delAA
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*76_*77delAA
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asn152TyrfsTer29
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: GAA
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

16-8905503-TATAAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905503
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905498
    reference: chr 16
allele count: 2
allele frequency: 1.651664051531918e-5
allele num: 121090
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.458_462delTAAGA
  hgvsp: ENSP00000268261.4:p.Ile153ThrfsTer27
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*180_*184delTAAGA
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.185_189delTAAGA
  hgvsp: ENSP00000456302.1:p.Ile62ThrfsTer27
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.189_193delTAAGA
  hgvsp: ENSP00000456961.1:p.Thr65SerfsTer3
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*80_*84delTAAGA
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.209_213delTAAGA
  hgvsp: ENSP00000445879.1:p.Ile70ThrfsTer27
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*80_*84delTAAGA
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.377_381delTAAGA
  hgvsp: ENSP00000457956.1:p.Ile126ThrfsTer27
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.83_87delTAAGA
  hgvsp: ENSP00000438359.1:p.Ile28ThrfsTer27
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*76_*80delTAAGA
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3626_3630delTAAGA
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.425_*2delTAAGA
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*256_*260delTAAGA
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.358_*2delTAAGA
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26964
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile153ThrfsTer27
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: TATAAG
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD

16-8905505-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905505
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905505
    reference: chr 16
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3626T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.425T>C
  hgvsp: ENSP00000455320.1:p.Ter143GlnextTer5
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.185T>C
  hgvsp: ENSP00000456302.1:p.Ile62Thr
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.83T>C
  hgvsp: ENSP00000438359.1:p.Ile28Thr
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.458T>C
  hgvsp: ENSP00000268261.4:p.Ile153Thr
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*180T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*76T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*80T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.358T>C
  hgvsp: ENSP00000456774.1:p.Ter120GlnextTer5
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.209T>C
  hgvsp: ENSP00000445879.1:p.Ile70Thr
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*80T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.377T>C
  hgvsp: ENSP00000457956.1:p.Ile126Thr
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.189T>C
  hgvsp: ENST00000570076.1:c.189T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*256T>C
  variant of: http://identifiers.org/hgnc/9115
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26998
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ter143GlnextTer5
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

16-8905510-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905510
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905510
    reference: chr 16
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.463C>T
  hgvsp: ENSP00000268261.4:p.Gln155Ter
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*185C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3631C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.214C>T
  hgvsp: ENSP00000445879.1:p.Gln72Ter
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*261C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*85C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*85C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.88C>T
  hgvsp: ENSP00000438359.1:p.Gln30Ter
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.194C>T
  hgvsp: ENSP00000456961.1:p.Thr65Ile
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.382C>T
  hgvsp: ENSP00000457956.1:p.Gln128Ter
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.190C>T
  hgvsp: ENSP00000456302.1:p.Gln64Ter
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.*3C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*81C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.*3C>T
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln155Ter
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: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

16-8905517-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905517
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905517
    reference: chr 16
allele count: 33
allele frequency: 2.721110872899385e-4
allele num: 121274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.221T>C
  hgvsp: ENSP00000445879.1:p.Phe74Ser
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.95T>C
  hgvsp: ENSP00000438359.1:p.Phe32Ser
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.*10T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*92T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*92T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.389T>C
  hgvsp: ENSP00000457956.1:p.Phe130Ser
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*88T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.201T>C
  hgvsp: ENST00000570076.1:c.201T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3638T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.*10T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*268T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.470T>C
  hgvsp: ENSP00000268261.4:p.Phe157Ser
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*192T>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.197T>C
  hgvsp: ENSP00000456302.1:p.Phe66Ser
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe157Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

16-8905523-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905523
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905523
    reference: chr 16
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.*16C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*198C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.203C>T
  hgvsp: ENSP00000456302.1:p.Ala68Val
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.395C>T
  hgvsp: ENSP00000457956.1:p.Ala132Val
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.476C>T
  hgvsp: ENSP00000268261.4:p.Ala159Val
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.101C>T
  hgvsp: ENSP00000438359.1:p.Ala34Val
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456024
  ensembl transcript: ENST00000565896
  gene symbol: PMM2
  hgvsc: ENST00000565896.1:c.*274C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.207C>T
  hgvsp: ENST00000570076.1:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.*16C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.227C>T
  hgvsp: ENSP00000445879.1:p.Ala76Val
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*98C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*94C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3644C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*98C>T
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala159Val
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-8905528-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905528
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905528
    reference: chr 16
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.*21C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.212C>G
  hgvsp: ENSP00000456961.1:p.Ser71Cys
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.481C>G
  hgvsp: ENSP00000268261.4:p.Leu161Val
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.400C>G
  hgvsp: ENSP00000457956.1:p.Leu134Val
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*203C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.232C>G
  hgvsp: ENSP00000445879.1:p.Leu78Val
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*103C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3649C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.106C>G
  hgvsp: ENSP00000438359.1:p.Leu36Val
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.208C>G
  hgvsp: ENSP00000456302.1:p.Leu70Val
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*99C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*103C>G
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.*21C>G
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu161Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum

16-8905531-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905531
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905531
    reference: chr 16
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*106C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.215C>T
  hgvsp: ENSP00000456961.1:p.Thr72Met
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.484C>T
  hgvsp: ENSP00000268261.4:p.Arg162Trp
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.235C>T
  hgvsp: ENSP00000445879.1:p.Arg79Trp
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.*24C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.109C>T
  hgvsp: ENSP00000438359.1:p.Arg37Trp
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.211C>T
  hgvsp: ENSP00000456302.1:p.Arg71Trp
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.*24C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.403C>T
  hgvsp: ENSP00000457956.1:p.Arg135Trp
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3652C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*206C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*106C>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*102C>T
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg162Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD

16-8905532-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905532
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905532
    reference: chr 16
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.216G>A
  hgvsp: ENST00000570076.1:c.216G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.212G>A
  hgvsp: ENSP00000456302.1:p.Arg71Gln
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.110G>A
  hgvsp: ENSP00000438359.1:p.Arg37Gln
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.404G>A
  hgvsp: ENSP00000457956.1:p.Arg135Gln
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*107G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.*25G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.485G>A
  hgvsp: ENSP00000268261.4:p.Arg162Gln
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.236G>A
  hgvsp: ENSP00000445879.1:p.Arg79Gln
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.*25G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*107G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3653G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*103G>A
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*207G>A
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg162Gln
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

16-8905532-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905532
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905532
    reference: chr 16
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*107G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.404G>T
  hgvsp: ENSP00000457956.1:p.Arg135Leu
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*103G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.236G>T
  hgvsp: ENSP00000445879.1:p.Arg79Leu
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.216G>T
  hgvsp: ENST00000570076.1:c.216G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.110G>T
  hgvsp: ENSP00000438359.1:p.Arg37Leu
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.*25G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*107G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.485G>T
  hgvsp: ENSP00000268261.4:p.Arg162Leu
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3653G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.*25G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*207G>T
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.212G>T
  hgvsp: ENSP00000456302.1:p.Arg71Leu
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg162Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/16-8905534-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905534
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905534
    reference: chr 16
allele count: 2
allele frequency: 1.648396933981703e-5
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.487A>C
  hgvsp: ENSP00000268261.4:p.Lys163Gln
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.218A>C
  hgvsp: ENSP00000456961.1:p.Glu73Ala
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.*27A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.112A>C
  hgvsp: ENSP00000438359.1:p.Lys38Gln
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*109A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3655A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*209A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*109A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.*27A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.238A>C
  hgvsp: ENSP00000445879.1:p.Lys80Gln
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.214A>C
  hgvsp: ENSP00000456302.1:p.Lys72Gln
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.406A>C
  hgvsp: ENSP00000457956.1:p.Lys136Gln
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*105A>C
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys163Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/16-8905535-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8905535
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 8905535
    reference: chr 16
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000268261
  ensembl transcript: ENST00000268261
  gene symbol: PMM2
  hgvsc: ENST00000268261.4:c.488A>C
  hgvsp: ENSP00000268261.4:p.Lys163Thr
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456961
  ensembl transcript: ENST00000570076
  gene symbol: PMM2
  hgvsc: ENST00000570076.1:c.219A>C
  hgvsp: ENSP00000456961.1:p.Glu73Asp
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000455320
  ensembl transcript: ENST00000564069
  gene symbol: PMM2
  hgvsc: ENST00000564069.1:c.*28A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000445879
  ensembl transcript: ENST00000539622
  gene symbol: PMM2
  hgvsc: ENST00000539622.1:c.239A>C
  hgvsp: ENSP00000445879.1:p.Lys80Thr
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456774
  ensembl transcript: ENST00000566604
  gene symbol: PMM2
  hgvsc: ENST00000566604.1:c.*28A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000438359
  ensembl transcript: ENST00000537352
  gene symbol: PMM2
  hgvsc: ENST00000537352.1:c.113A>C
  hgvsp: ENSP00000438359.1:p.Lys38Thr
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456275
  ensembl transcript: ENST00000570134
  gene symbol: PMM2
  hgvsc: ENST00000570134.1:c.*110A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457932
  ensembl transcript: ENST00000565221
  gene symbol: PMM2
  hgvsc: ENST00000565221.1:c.*106A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000457956
  ensembl transcript: ENST00000566983
  gene symbol: PMM2
  hgvsc: ENST00000566983.1:c.407A>C
  hgvsp: ENSP00000457956.1:p.Lys136Thr
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140650
  ensembl transcript: ENST00000567697
  gene symbol: PMM2
  hgvsc: ENST00000567697.1:n.3656A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454284
  ensembl transcript: ENST00000566540
  gene symbol: PMM2
  hgvsc: ENST00000566540.1:c.*110A>C
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000456302
  ensembl transcript: ENST00000569958
  gene symbol: PMM2
  hgvsc: ENST00000569958.1:c.215A>C
  hgvsp: ENSP00000456302.1:p.Lys72Thr
  variant of: http://identifiers.org/hgnc/9115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000140650
  ensembl protein: ENSP00000454395
  ensembl transcript: ENST00000562318
  gene symbol: PMM2
  hgvsc: ENST00000562318.1:c.*210A>C
  variant of: http://identifiers.org/hgnc/9115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys163Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

GenotypeDepth
all individuals: 461
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 511
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 616
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1863
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 706
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 696
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2391
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 700
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 578
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 475
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1713
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23293
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18389
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2359
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8736
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 1.178967224711153e-4
allele num: 8482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1148
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.95e0

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

DP
type: SiteQuality
SIO_000300: 1.064183e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.33e-2

GenotypeDepth
all individuals: 706
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 372
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 615
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26770
bin: 7.5e0
variant carriers: 21

GenotypeDepth
all individuals: 2207
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 624
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 515
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 475
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 637
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2394
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 191
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 24709
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 370
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 907
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 388
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 16888
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 2.5e0
variant carriers: 1

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

GenotypeQuality
all individuals: 136
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 125
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2683
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1742
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 8756
bin: 9.75e1
variant carriers: 30

Other
type: Population
allele count: 1
allele frequency: 3.623188405797101e-3
allele num: 276
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.339181286549708e-4
allele num: 8550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13334
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1018
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

East Asian
type: Population
allele count: 26
allele frequency: 2.063492063492063e-2
allele num: 1260
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.15e-1

FS
type: SiteQuality
SIO_000300: 5.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.13e-2

QD
type: SiteQuality
SIO_000300: 1.187e1

MQ
type: SiteQuality
SIO_000300: 5.863e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.031e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

DP
type: SiteQuality
SIO_000300: 1.081906e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 772
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 625
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1538
bin: 1.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 475
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GenotypeQuality
all individuals: 8736
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 372
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.447125409591897e-5
allele num: 13428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 5.763e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-2

DP
type: SiteQuality
SIO_000300: 1.084595e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.07e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.477e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 396
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 786
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variant carriers: 0

GenotypeDepth
all individuals: 461
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variant carriers: 0

GenotypeDepth
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variant carriers: 7

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
all individuals: 2785
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 207
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GenotypeQuality
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bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 865
bin: 1.25e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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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: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 192
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8738
bin: 9.75e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1088
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.475143826523086e-4
allele num: 13558
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 7.451564828614009e-4
allele num: 1342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.65e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.52e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

MQ
type: SiteQuality
SIO_000300: 5.787e1

DP
type: SiteQuality
SIO_000300: 1.088416e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

GenotypeDepth
all individuals: 2390
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 516
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variant carriers: 0

GenotypeDepth
all individuals: 638
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2322
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variant carriers: 0

GenotypeDepth
all individuals: 1570
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variant carriers: 0

GenotypeDepth
all individuals: 701
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variant carriers: 0

GenotypeDepth
all individuals: 527
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variant carriers: 0

GenotypeDepth
all individuals: 625
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variant carriers: 0

GenotypeDepth
all individuals: 579
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variant carriers: 0

GenotypeDepth
all individuals: 694
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variant carriers: 0

GenotypeDepth
all individuals: 786
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variant carriers: 0

GenotypeQuality
all individuals: 865
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variant carriers: 0

GenotypeQuality
all individuals: 63
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GenotypeQuality
all individuals: 192
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variant carriers: 0

GenotypeQuality
all individuals: 410
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GenotypeQuality
all individuals: 67
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GenotypeQuality
all individuals: 8738
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1856
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 796
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variant carriers: 0

GenotypeQuality
all individuals: 168
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2785
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variant carriers: 0

GenotypeQuality
all individuals: 43
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GenotypeQuality
all individuals: 207
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variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1088
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.773155851358847e-4
allele num: 3606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13558
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

DP
type: SiteQuality
SIO_000300: 1.088416e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

MQ
type: SiteQuality
SIO_000300: 5.787e1

QD
type: SiteQuality
SIO_000300: 9.65e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.52e-2

GenotypeDepth
all individuals: 527
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 853
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1854
bin: 1.25e1
variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

GenotypeQuality
all individuals: 98
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14920
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8706
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 5.227391531625719e-4
allele num: 3826
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.302e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.66e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

QD
type: SiteQuality
SIO_000300: 1.208e1

DP
type: SiteQuality
SIO_000300: 1.117934e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.44e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

GenotypeDepth
all individuals: 370
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 253
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variant carriers: 0

GenotypeDepth
all individuals: 1899
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 694
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.145737855178735e-4
allele num: 8728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1660
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 15008
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3844
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.728e1

FS
type: SiteQuality
SIO_000300: 5.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.038e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.61e-2

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.422e0

DP
type: SiteQuality
SIO_000300: 1.119866e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.62e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8758
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
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African
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num of homozygotes: 0

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

Other
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num of homozygotes: 0

MQRankSum
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FS
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MQ
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InbreedingCoeff
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BaseQRankSum
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DP
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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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

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

European (Finnish)
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European (Non-Finnish)
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num of homozygotes: 0

QD
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DP
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MQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

South Asian
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Other
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num of homozygotes: 0

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

Latino
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European (Finnish)
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African
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MQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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DP
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QD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 15438
num of homozygotes: 0

South Asian
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East Asian
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African
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Latino
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Other
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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FS
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MQ
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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DP
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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Latino
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African
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Other
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East Asian
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South Asian
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DP
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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FS
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QD
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MQ
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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European (Non-Finnish)
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Latino
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South Asian
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East Asian
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MQRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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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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African
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European (Non-Finnish)
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allele count: 1
allele frequency: 6.421782686873876e-5
allele num: 15572
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.703e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.75e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.154e0

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 1.818e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.479e-1

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

DP
type: SiteQuality
SIO_000300: 1.118843e6

GenotypeDepth
all individuals: 527
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variant carriers: 0

GenotypeDepth
all individuals: 477
bin: 4.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 2397
bin: 9.75e1
variant carriers: 5

GenotypeDepth
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GenotypeQuality
all individuals: 820
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3922
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 5.693463903438852e-4
allele num: 8782
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.79e1

DP
type: SiteQuality
SIO_000300: 1.112823e6

VQSLOD
type: SiteQuality
SIO_000300: 3.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.195e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.35e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeDepth
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bin: 3.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15435
bin: 7.5e0
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3922
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.416837782340863e-5
allele num: 15584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1730
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8782
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.35e-2

QD
type: SiteQuality
SIO_000300: 1.195e1

VQSLOD
type: SiteQuality
SIO_000300: 3.03e0

MQ
type: SiteQuality
SIO_000300: 5.79e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.112823e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeDepth
all individuals: 254
bin: 1.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.139731023478459e-4
allele num: 8774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1742
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1614
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.095e1

DP
type: SiteQuality
SIO_000300: 1.107989e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.38e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.0e0

FS
type: SiteQuality
SIO_000300: 1.009e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQ
type: SiteQuality
SIO_000300: 5.739e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.76e-1

GenotypeDepth
all individuals: 580
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 615
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 369
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 692
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 700
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 117
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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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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1742
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8774
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3898
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15568
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 1.095e1

MQRankSum
type: SiteQuality
SIO_000300: 9.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.38e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.739e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.0e0

FS
type: SiteQuality
SIO_000300: 1.009e0

DP
type: SiteQuality
SIO_000300: 1.107989e6

GenotypeDepth
all individuals: 528
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 900
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 272
bin: 1.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 2.579979360165118e-4
allele num: 3876
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.476683937823834e-5
allele num: 15440
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.141813199360585e-4
allele num: 8758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.71e0

FS
type: SiteQuality
SIO_000300: 5.809e0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e-1

QD
type: SiteQuality
SIO_000300: 1.161e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.041e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

DP
type: SiteQuality
SIO_000300: 1.098558e6

MQ
type: SiteQuality
SIO_000300: 5.789e1

GenotypeDepth
all individuals: 395
bin: 3.75e1
variant carriers: 3

GenotypeDepth
all individuals: 682
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variant carriers: 0

GenotypeDepth
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variant carriers: 105

GenotypeDepth
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variant carriers: 17

GenotypeDepth
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GenotypeDepth
all individuals: 2040
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variant carriers: 5

GenotypeDepth
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GenotypeDepth
all individuals: 697
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GenotypeDepth
all individuals: 461
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GenotypeDepth
all individuals: 580
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GenotypeDepth
all individuals: 2423
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variant carriers: 42

GenotypeDepth
all individuals: 639
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 344
bin: 6.75e1
variant carriers: 10

GenotypeQuality
all individuals: 139
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GenotypeQuality
all individuals: 831
bin: 2.5e0
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GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1552
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 214
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variant carriers: 10

GenotypeQuality
all individuals: 201
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variant carriers: 13

GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 967
bin: 1.25e1
variant carriers: 6

GenotypeQuality
all individuals: 2657
bin: 6.25e1
variant carriers: 10

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 11

GenotypeQuality
all individuals: 454
bin: 2.75e1
variant carriers: 9

GenotypeQuality
all individuals: 17211
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 316
bin: 3.25e1
variant carriers: 6

GenotypeQuality
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bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 113
bin: 8.75e1
variant carriers: 16

GenotypeQuality
all individuals: 8882
bin: 9.75e1
variant carriers: 204

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 8

GenotypeQuality
all individuals: 177
bin: 9.25e1
variant carriers: 11

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1692
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 9.136592051164915e-4
allele num: 8756
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 6.97084917617237e-3
allele num: 1578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 174
allele frequency: 1.119258973369355e-2
allele num: 15546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 14
allele frequency: 2.755905511811024e-2
allele num: 508
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 6.535947712418301e-3
allele num: 306
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 1.03359173126615e-3
allele num: 3870
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.101695e6

MQRankSum
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VQSLOD
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QD
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BaseQRankSum
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SIO_000300: -7.2e-1

FS
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InbreedingCoeff
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SIO_000300: -2.89e-2

ClippingRankSum
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SIO_000300: 2.3e-1

MQ
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SIO_000300: 5.763e1

ReadPosRankSum
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SIO_000300: 5.31e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.303611002476861e-4
allele num: 15342
num of homozygotes: 0

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

South Asian
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Other
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num of homozygotes: 0

MQRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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DP
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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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

East Asian
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allele frequency: 7.343941248470012e-3
allele num: 1634
num of homozygotes: 0

Other
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num of homozygotes: 0

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

South Asian
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VQSLOD
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SIO_000300: 4.51e-1

InbreedingCoeff
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MQ
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SIO_000300: 5.758e1

ClippingRankSum
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BaseQRankSum
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QD
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MQRankSum
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FS
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SIO_000300: 5.649999999999999e-1

DP
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SIO_000300: 1.074969e6

ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

Latino
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.01e0

InbreedingCoeff
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VQSLOD
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QD
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DP
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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MQ
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SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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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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allele frequency: 0.0e0
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European (Non-Finnish)
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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FS
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DP
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InbreedingCoeff
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MQ
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Latino
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European (Non-Finnish)
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European (Finnish)
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Other
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East Asian
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MQ
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ClippingRankSum
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QD
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DP
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BaseQRankSum
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FS
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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European (Non-Finnish)
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East Asian
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African
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Latino
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Other
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ClippingRankSum
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VQSLOD
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MQ
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DP
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -2.899e0

QD
type: SiteQuality
SIO_000300: 1.103e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.93e-2

FS
type: SiteQuality
SIO_000300: 3.198e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 12

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

South Asian
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allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1170
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 2.763957987838585e-4
allele num: 3618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 1.063528077141237e-3
allele num: 14104
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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QD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.779e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -4.36e-2

DP
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 1180
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1324
num of homozygotes: 0

African
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allele count: 1
allele frequency: 2.765486725663717e-4
allele num: 3616
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.168770453482936e-4
allele num: 8556
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 2.831257078142696e-4
allele num: 14128
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 1.344e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-2

MQ
type: SiteQuality
SIO_000300: 5.703e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e-1

DP
type: SiteQuality
SIO_000300: 1.033045e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1290
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.774694783573807e-4
allele num: 3604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 14052
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1170
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.026533e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

MQ
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SIO_000300: 6.0e1

QD
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3500
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 2.568493150684931e-3
allele num: 1168
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 974
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.39863865048831e-5
allele num: 13516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.63e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

MQ
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
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FS
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QD
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SIO_000300: 1.234e1

BaseQRankSum
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SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.009121e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 3402
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 12880
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
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SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.59e-2

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 9.93192e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -1.012e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 545

GenotypeDepth
all individuals: 332
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
all individuals: 992
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3832
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GenotypeQuality
all individuals: 204
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GenotypeQuality
all individuals: 163
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 212

GenotypeQuality
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variant carriers: 279

GenotypeQuality
all individuals: 502
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variant carriers: 429

GenotypeQuality
all individuals: 336
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variant carriers: 254

European (Non-Finnish)
type: Population
allele count: 7102
allele frequency: 5.427174079168577e-1
allele num: 13086
num of homozygotes: 1828

Other
type: Population
allele count: 125
allele frequency: 4.464285714285715e-1
allele num: 280
num of homozygotes: 30

South Asian
type: Population
allele count: 3435
allele frequency: 4.062204351939451e-1
allele num: 8456
num of homozygotes: 710

Latino
type: Population
allele count: 410
allele frequency: 4.691075514874142e-1
allele num: 874
num of homozygotes: 84

African
type: Population
allele count: 970
allele frequency: 2.864737152982871e-1
allele num: 3386
num of homozygotes: 125

European (Finnish)
type: Population
allele count: 219
allele frequency: 6.55688622754491e-1
allele num: 334
num of homozygotes: 64

East Asian
type: Population
allele count: 514
allele frequency: 4.961389961389961e-1
allele num: 1036
num of homozygotes: 111

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 2.443e0

QD
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SIO_000300: 2.093e1

InbreedingCoeff
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SIO_000300: 1.728e-1

VQSLOD
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SIO_000300: 3.46e0

MQ
type: SiteQuality
SIO_000300: 5.771e1

DP
type: SiteQuality
SIO_000300: 1.173747e6

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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GenotypeQuality
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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: 9

GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 10

Latino
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allele count: 6
allele frequency: 9.966777408637873e-3
allele num: 602
num of homozygotes: 0

African
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allele count: 7
allele frequency: 2.20959595959596e-3
allele num: 3168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 1.298701298701299e-2
allele num: 154
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.968253968253968e-3
allele num: 252
num of homozygotes: 0

European (Non-Finnish)
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allele count: 95
allele frequency: 8.402618078896161e-3
allele num: 11306
num of homozygotes: 0

South Asian
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allele count: 8
allele frequency: 9.675858732462506e-4
allele num: 8268
num of homozygotes: 1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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SIO_000300: 1.357e1

ClippingRankSum
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SIO_000300: 2.0e-1

MQ
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 5.41e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 8.22179e5

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.450980392156863e-3
allele num: 816
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

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

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 8.22179e5

MQ
type: SiteQuality
SIO_000300: 5.766e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
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SIO_000300: -3.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 4.03e-1

VQSLOD
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SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.41e-2

ClippingRankSum
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SIO_000300: 2.0e-1

GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.91e-2

QD
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SIO_000300: 1.893e1

MQRankSum
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SIO_000300: 7.31e-1

ReadPosRankSum
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BaseQRankSum
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SIO_000300: 3.61e-1

FS
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SIO_000300: 2.808e0

VQSLOD
type: SiteQuality
SIO_000300: -7.413e-1

ClippingRankSum
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SIO_000300: -7.29e-1

MQ
type: SiteQuality
SIO_000300: 5.739e1

DP
type: SiteQuality
SIO_000300: 8.14239e5

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3154
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.893e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.808e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.91e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

BaseQRankSum
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

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

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

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

African
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Latino
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Other
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European (Finnish)
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ClippingRankSum
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DP
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MQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.552216565255184e-5
allele num: 64424
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele 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

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.549907005579665e-5
allele num: 64520
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QD
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DP
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FS
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MQ
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 84
allele frequency: 1.298540687608212e-3
allele num: 64688
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 904
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.756543123133673e-4
allele num: 11386
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.110228522546743e-5
allele num: 16366
num of homozygotes: 0

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

African
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allele frequency: 1.990445859872612e-4
allele num: 10048
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BaseQRankSum
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SIO_000300: 3.0e0

FS
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SIO_000300: 0.0e0

QD
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InbreedingCoeff
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ClippingRankSum
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SIO_000300: -1.66e-1

MQ
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MQRankSum
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VQSLOD
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ReadPosRankSum
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SIO_000300: 5.19e-1

DP
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SIO_000300: 1.90861e6

GenotypeDepth
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64996
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Latino
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allele frequency: 8.761170492377782e-5
allele num: 11414
num of homozygotes: 0

South Asian
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MQRankSum
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MQ
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DP
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 1.0e-4

ClippingRankSum
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ReadPosRankSum
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VQSLOD
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10108
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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allele num: 65066
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Other
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BaseQRankSum
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QD
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MQRankSum
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VQSLOD
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DP
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MQ
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ClippingRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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European (Non-Finnish)
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African
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South Asian
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European (Finnish)
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Latino
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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QD
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DP
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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Latino
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Other
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MQRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -4.0e-4

MQ
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SIO_000300: 5.96e1

ClippingRankSum
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SIO_000300: 4.29e-1

DP
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ReadPosRankSum
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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European (Finnish)
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele num: 11532
num of homozygotes: 0

Other
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allele count: 0
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num of homozygotes: 0

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

European (Non-Finnish)
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num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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European (Non-Finnish)
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East Asian
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African
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Other
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DP
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQ
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MQRankSum
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66594
num of homozygotes: 0

Latino
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South Asian
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East Asian
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Other
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African
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European (Finnish)
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VQSLOD
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QD
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MQRankSum
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InbreedingCoeff
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FS
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DP
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ClippingRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
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African
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European (Finnish)
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Latino
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East Asian
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Other
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FS
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VQSLOD
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DP
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QD
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MQRankSum
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SIO_000300: 1.66e-1

BaseQRankSum
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SIO_000300: 8.83e-1

ClippingRankSum
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SIO_000300: -5.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
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SIO_000300: 6.47e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 6

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 4.500585076059888e-4
allele num: 66658
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.987844e6

QD
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MQRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeDepth
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variant carriers: 0

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

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

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

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

East Asian
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allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

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

QD
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SIO_000300: 9.41e0

MQRankSum
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ClippingRankSum
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DP
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SIO_000300: 1.987477e6

MQ
type: SiteQuality
SIO_000300: 5.923e1

VQSLOD
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InbreedingCoeff
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SIO_000300: -1.0e-4

FS
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SIO_000300: 2.195e0

ReadPosRankSum
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SIO_000300: 1.8e0

BaseQRankSum
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SIO_000300: -9.17e-1

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.987771e6

BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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FS
type: SiteQuality
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QD
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MQ
type: SiteQuality
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MQRankSum
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SIO_000300: -2.67e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele num: 16510
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East Asian
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Other
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQ
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ReadPosRankSum
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MQRankSum
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DP
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FS
type: SiteQuality
SIO_000300: 1.103e0

QD
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GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

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

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12114
bin: 9.75e1
variant carriers: 2

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

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

GenotypeQuality
all individuals: 2905
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6920
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1441
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 30162
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3581
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2427
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.924187030979411e-4
allele num: 10394
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.51e-1

QD
type: SiteQuality
SIO_000300: 1.511e1

MQ
type: SiteQuality
SIO_000300: 5.985e1

FS
type: SiteQuality
SIO_000300: 1.287e0

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.73e-1

DP
type: SiteQuality
SIO_000300: 1.988106e6

GenotypeDepth
all individuals: 1132
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 847
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2564
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6136
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 512
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 369
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6918
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30164
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2427
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3581
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2904
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12115
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1441
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
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: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

DP
type: SiteQuality
SIO_000300: 1.988039e6

VQSLOD
type: SiteQuality
SIO_000300: 2.02e-1

QD
type: SiteQuality
SIO_000300: 1.318e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.55e0

MQRankSum
type: SiteQuality
SIO_000300: -9.26e-1