17-18236350-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236350
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236350
    reference: chr 17
allele count: 1
allele frequency: 2.410684152162384e-5
allele num: 41482
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2365G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.404G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+130G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+130G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+130G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+130G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+130G>A
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10394
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29584
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6278
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4848
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3729
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

17-18236360-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236360
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236360
    reference: chr 17
allele count: 1
allele frequency: 2.109882690522407e-5
allele num: 47396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+120A>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+120A>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.394A>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+120A>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+120A>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+120A>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2375A>C
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11131
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3727
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30944
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

17-18236364-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236364
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236364
    reference: chr 17
allele count: 4
allele frequency: 7.709803014532978e-5
allele num: 51882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+116G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2379G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+116G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+116G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+116G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.390G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+116G>A
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31286
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11097
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8986
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2819
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 434
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3963
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

17-18236367-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236367
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236367
    reference: chr 17
allele count: 1
allele frequency: 1.807076511619502e-5
allele num: 55338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2382T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+113T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+113T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+113T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.387T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+113T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+113T>C
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30364
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4269
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

17-18236369-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236369
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236369
    reference: chr 17
allele count: 5
allele frequency: 8.818342151675486e-5
allele num: 56700
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2384G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.385G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+111G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+111G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+111G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+111G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+111G>C
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11531
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29999
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10518
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10941
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

17-18236373-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236373
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236373
    reference: chr 17
allele count: 1
allele frequency: 1.677796047112513e-5
allele num: 59602
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+107C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+107C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+107C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2388C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+107C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+107C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.381C>T
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28834
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11378
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3648
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-18236379-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236379
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236379
    reference: chr 17
allele count: 15
allele frequency: 2.222617354196302e-4
allele num: 67488
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+101C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.375C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+101C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+101C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+101C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2394C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+101C>T
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9054
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17276
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16608
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-18236389-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236389
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236389
    reference: chr 17
allele count: 1
allele frequency: 1.201518719661652e-5
allele num: 83228
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+91T>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2404T>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+91T>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+91T>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.365T>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+91T>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+91T>G
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

17-18236402-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236402
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236402
    reference: chr 17
allele count: 1
allele frequency: 9.922209874583267e-6
allele num: 100784
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+78A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2417A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.352A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+78A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+78A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+78A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+78A>G
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3229
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

17-18236403-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236403
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236403
    reference: chr 17
allele count: 1
allele frequency: 9.829362270975859e-6
allele num: 101736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+77G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+77G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+77G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+77G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2418G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+77G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.351G>A
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9647
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37147
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3229
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10167
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

17-18236407-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236407
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236407
    reference: chr 17
allele count: 1
allele frequency: 9.511670820096258e-6
allele num: 105134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.347C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2422C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+73C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+73C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+73C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+73C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+73C>T
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8009
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38394
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3440
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8455
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

17-18236408-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236408
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236408
    reference: chr 17
allele count: 3
allele frequency: 2.837899197820493e-5
allele num: 105712
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+72A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.346A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+72A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2423A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+72A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+72A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+72A>G
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38904
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

17-18236410-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236410
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236410
    reference: chr 17
allele count: 1
allele frequency: 9.368383579097263e-6
allele num: 106742
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+70C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.344C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+70C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+70C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2425C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+70C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+70C>T
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7663
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39758
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

17-18236425-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236425
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236425
    reference: chr 17
allele count: 3
allele frequency: 2.602901367390852e-5
allele num: 115256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+55G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+55G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+55G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+55G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.329G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+55G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2440G>C
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43174
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46270
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

17-18236429-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236429
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236429
    reference: chr 17
allele count: 1
allele frequency: 8.557101538566857e-6
allele num: 116862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.325G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+51G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+51G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+51G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2444G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+51G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+51G>A
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4252
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47614
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

17-18236431-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236431
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236431
    reference: chr 17
allele count: 1
allele frequency: 8.513536523071684e-6
allele num: 117460
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+49A>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.323A>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+49A>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2446A>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+49A>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+49A>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+49A>C
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48123
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-18236438-AACC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236438
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236435
    reference: chr 17
allele count: 6
allele frequency: 5.05093021298089e-5
allele num: 118790
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+39_1054+41delGGT
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+39_*551+41delGGT
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+39_640+41delGGT
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2456_815-2454delGGT
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.313_315delGGT
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+39_937+41delGGT
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+39_1377+41delGGT
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48782
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: AACC
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS

17-18236439-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236439
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236439
    reference: chr 17
allele count: 1
allele frequency: 8.411560849231184e-6
allele num: 118884
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.315T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2454T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+41T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+41T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+41T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+41T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+41T>C
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

17-18236451-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236451
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236451
    reference: chr 17
allele count: 1
allele frequency: 8.340700952508049e-6
allele num: 119894
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+29C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+29C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+29C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.303C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+29C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2466C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+29C>T
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

17-18236452-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236452
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236452
    reference: chr 17
allele count: 32
allele frequency: 2.668089647812167e-4
allele num: 119936
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.302C>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+28C>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+28C>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+28C>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+28C>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2467C>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+28C>G
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44809
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11000
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4566
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

17-18236461-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236461
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236461
    reference: chr 17
allele count: 1
allele frequency: 8.311999202048076e-6
allele num: 120308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.293T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+19T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2476T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+19T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+19T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+19T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+19T>C
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44671
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49879
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4633
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD

17-18236462-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236462
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236462
    reference: chr 17
allele count: 2
allele frequency: 1.662123529020677e-5
allele num: 120328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.292G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+18G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+18G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2477G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+18G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+18G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+18G>A
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49833
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

17-18236463-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236463
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236463
    reference: chr 17
allele count: 6
allele frequency: 4.985707638104102e-5
allele num: 120344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+17T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+17T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2478T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+17T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.291T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+17T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+17T>C
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49801
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4623
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

17-18236464-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236464
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236464
    reference: chr 17
allele count: 9
allele frequency: 7.477318799641089e-5
allele num: 120364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+16G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+16G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+16G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+16G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+16G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2479G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.290G>A
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11465
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

17-18236465-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236465
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236465
    reference: chr 17
allele count: 1
allele frequency: 8.307303781484682e-6
allele num: 120376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2480G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+15G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+15G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+15G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+15G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.289G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+15G>A
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49824
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

17-18236466-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236466
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236466
    reference: chr 17
allele count: 1
allele frequency: 8.305647840531562e-6
allele num: 120400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2481T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+14T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+14T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+14T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+14T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+14T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.288T>C
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49916
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4656
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-18236468-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236468
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236468
    reference: chr 17
allele count: 1
allele frequency: 8.303992559622666e-6
allele num: 120424
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2483G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.286G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+12G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+12G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+12G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+12G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+12G>C
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11587
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49900
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

17-18236472-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236472
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236472
    reference: chr 17
allele count: 1
allele frequency: 8.300132802124834e-6
allele num: 120480
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+8C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+8C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2487C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+8C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+8C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+8C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.282C>T
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4666
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1054+8C>T
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

17-18236474-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236474
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236474
    reference: chr 17
allele count: 80
allele frequency: 6.637902422834385e-4
allele num: 120520
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1054+6G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1377+6G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2489G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.280G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.640+6G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.937+6G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*551+6G>A
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11680
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44437
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 7.75e1
  variant carriers: 0
hgvs: c.1054+6G>A
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

17-18236481-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236481
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236481
    reference: chr 17
allele count: 1
allele frequency: 8.2936619835122e-6
allele num: 120574
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.936A>G
  hgvsp: ENST00000354098.3:c.936A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1376A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.273A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2496A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*550A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1053A>G
  hgvsp: ENST00000316694.3:c.1053A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.639A>G
  hgvsp: ENST00000539052.1:c.639A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4684
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49988
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1053A>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD

17-18236482-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236482
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236482
    reference: chr 17
allele count: 2
allele frequency: 1.658374792703151e-5
allele num: 120600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.935C>T
  hgvsp: ENSP00000318805.3:p.Thr312Ile
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1052C>T
  hgvsp: ENSP00000318868.3:p.Thr351Ile
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1375C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*549C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.272C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.638C>T
  hgvsp: ENSP00000440089.1:p.Thr213Ile
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2497C>T
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr351Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

17-18236486-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236486
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236486
    reference: chr 17
allele count: 1
allele frequency: 8.292148993333113e-6
allele num: 120596
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1371G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.931G>C
  hgvsp: ENSP00000318805.3:p.Val311Leu
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*545G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.268G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2501G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.634G>C
  hgvsp: ENSP00000440089.1:p.Val212Leu
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1048G>C
  hgvsp: ENSP00000318868.3:p.Val350Leu
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4678
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val350Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

17-18236486-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236486
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236486
    reference: chr 17
allele count: 6
allele frequency: 4.975289395999867e-5
allele num: 120596
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2501G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1048G>A
  hgvsp: ENSP00000318868.3:p.Val350Ile
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.931G>A
  hgvsp: ENSP00000318805.3:p.Val311Ile
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1371G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*545G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.634G>A
  hgvsp: ENSP00000440089.1:p.Val212Ile
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.268G>A
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4678
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val350Ile
num of homozygotes: 1
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

17-18236488-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236488
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236488
    reference: chr 17
allele count: 3
allele frequency: 2.487727212418734e-5
allele num: 120592
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1369T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.632T>C
  hgvsp: ENSP00000440089.1:p.Ile211Thr
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.929T>C
  hgvsp: ENSP00000318805.3:p.Ile310Thr
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*543T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1046T>C
  hgvsp: ENSP00000318868.3:p.Ile349Thr
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.266T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2503T>C
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile349Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

17-18236491-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236491
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236491
    reference: chr 17
allele count: 2
allele frequency: 1.658842459731599e-5
allele num: 120566
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2506A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*540A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1043A>G
  hgvsp: ENSP00000318868.3:p.Lys348Arg
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.629A>G
  hgvsp: ENSP00000440089.1:p.Lys210Arg
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.926A>G
  hgvsp: ENSP00000318805.3:p.Lys309Arg
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1366A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.263A>G
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4673
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys348Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

17-18236504-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236504
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236504
    reference: chr 17
allele count: 5
allele frequency: 4.152065237249008e-5
allele num: 120422
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2519G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.250G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.913G>C
  hgvsp: ENSP00000318805.3:p.Glu305Gln
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1353G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*527G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1030G>C
  hgvsp: ENSP00000318868.3:p.Glu344Gln
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.616G>C
  hgvsp: ENSP00000440089.1:p.Glu206Gln
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12155
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49248
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4653
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu344Gln
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

17-18236504-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236504
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236504
    reference: chr 17
allele count: 1
allele frequency: 8.304130474498016e-6
allele num: 120422
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*527G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1353G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2519G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1030G>A
  hgvsp: ENSP00000318868.3:p.Glu344Lys
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.250G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.913G>A
  hgvsp: ENSP00000318805.3:p.Glu305Lys
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.616G>A
  hgvsp: ENSP00000440089.1:p.Glu206Lys
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49248
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu344Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/17-18236505-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236505
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236505
    reference: chr 17
allele count: 1
allele frequency: 8.304406317992327e-6
allele num: 120418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.615G>T
  hgvsp: ENST00000539052.1:c.615G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.912G>T
  hgvsp: ENST00000354098.3:c.912G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1029G>T
  hgvsp: ENST00000316694.3:c.1029G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1352G>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.249G>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*526G>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2520G>T
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr343Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

17-18236505-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236505
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236505
    reference: chr 17
allele count: 1
allele frequency: 8.304406317992327e-6
allele num: 120418
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.249G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.912G>A
  hgvsp: ENST00000354098.3:c.912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.615G>A
  hgvsp: ENST00000539052.1:c.615G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1352G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1029G>A
  hgvsp: ENST00000316694.3:c.1029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2520G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*526G>A
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr343Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

17-18236506-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236506
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236506
    reference: chr 17
allele count: 6
allele frequency: 4.9838026414154e-5
allele num: 120390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.911C>T
  hgvsp: ENSP00000318805.3:p.Thr304Met
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1351C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.248C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*525C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.614C>T
  hgvsp: ENSP00000440089.1:p.Thr205Met
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1028C>T
  hgvsp: ENSP00000318868.3:p.Thr343Met
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2521C>T
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49420
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr343Met
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD

17-18236507-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236507
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236507
    reference: chr 17
allele count: 1
allele frequency: 8.307993951780402e-6
allele num: 120366
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1027A>T
  hgvsp: ENSP00000318868.3:p.Thr343Ser
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1350A>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.613A>T
  hgvsp: ENSP00000440089.1:p.Thr205Ser
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2522A>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.910A>T
  hgvsp: ENSP00000318805.3:p.Thr304Ser
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.247A>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*524A>T
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr343Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-18236516-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236516
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236516
    reference: chr 17
allele count: 102
allele frequency: 8.485292160255557e-4
allele num: 120208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.901G>C
  hgvsp: ENSP00000318805.3:p.Glu301Gln
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.604G>C
  hgvsp: ENSP00000440089.1:p.Glu202Gln
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2531G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1341G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1018G>C
  hgvsp: ENSP00000318868.3:p.Glu340Gln
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.238G>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*515G>C
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12181
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42730
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4594
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 9.75e1
  variant carriers: 100
genotype quality: GenotypeQuality
  all individuals: 48645
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu340Gln
num of homozygotes: 1
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

17-18236529-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236529
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236529
    reference: chr 17
allele count: 1
allele frequency: 8.342092530490349e-6
allele num: 119874
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*502C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1328C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.888C>T
  hgvsp: ENST00000354098.3:c.888C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.591C>T
  hgvsp: ENST00000539052.1:c.591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.1005C>T
  hgvsp: ENST00000316694.3:c.1005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2544C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.225C>T
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Cys335Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

17-18236535-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236535
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236535
    reference: chr 17
allele count: 12
allele frequency: 1.002070946623021e-4
allele num: 119752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.882C>T
  hgvsp: ENST00000354098.3:c.882C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*496C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.999C>T
  hgvsp: ENST00000316694.3:c.999C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1322C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.585C>T
  hgvsp: ENST00000539052.1:c.585C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.219C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2550C>T
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4476
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala333Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

17-18236538-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236538
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236538
    reference: chr 17
allele count: 2
allele frequency: 1.671821449469197e-5
allele num: 119630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.879G>A
  hgvsp: ENST00000354098.3:c.879G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.582G>A
  hgvsp: ENST00000539052.1:c.582G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*493G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2553G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1319G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.996G>A
  hgvsp: ENST00000316694.3:c.996G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.216G>A
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4414
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val332Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

17-18236540-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236540
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236540
    reference: chr 17
allele count: 2
allele frequency: 1.672828250723498e-5
allele num: 119558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.214G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.994G>A
  hgvsp: ENSP00000318868.3:p.Val332Met
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.580G>A
  hgvsp: ENSP00000440089.1:p.Val194Met
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2555G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.877G>A
  hgvsp: ENSP00000318805.3:p.Val293Met
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1317G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*491G>A
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46257
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val332Met
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

17-18236546-G-GGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236546
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236548
    reference: chr 17
allele count: 1
allele frequency: 8.379841453399702e-6
allele num: 119334
alternate allele: GGT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.869_870dupAC
  hgvsp: ENSP00000318805.3:p.Gln291ThrfsTer14
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2563_815-2562dupAC
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*483_*484dupAC
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.986_987dupAC
  hgvsp: ENSP00000318868.3:p.Gln330ThrfsTer14
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.206_207dupAC
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1309_1310dupAC
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.572_573dupAC
  hgvsp: ENSP00000440089.1:p.Gln192ThrfsTer14
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12546
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln330ThrfsTer14
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

17-18236547-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236547
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236547
    reference: chr 17
allele count: 1
allele frequency: 8.382510729613734e-6
allele num: 119296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1310C>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.207C>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.870C>G
  hgvsp: ENSP00000318805.3:p.His290Gln
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.573C>G
  hgvsp: ENSP00000440089.1:p.His191Gln
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*484C>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.987C>G
  hgvsp: ENSP00000318868.3:p.His329Gln
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2562C>G
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44908
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4342
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His329Gln
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

17-18236548-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236548
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236548
    reference: chr 17
allele count: 1
allele frequency: 8.383494575879009e-6
allele num: 119282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2563A>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.206A>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1309A>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.572A>T
  hgvsp: ENSP00000440089.1:p.His191Leu
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*483A>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.986A>T
  hgvsp: ENSP00000318868.3:p.His329Leu
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.869A>T
  hgvsp: ENSP00000318805.3:p.His290Leu
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44893
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His329Leu
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

17-18236549-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236549
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236548
    reference: chr 17
allele count: 2
allele frequency: 1.676783258995942e-5
allele num: 119276
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.570delA
  hgvsp: ENSP00000440089.1:p.Gln190HisfsTer15
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.867delA
  hgvsp: ENSP00000318805.3:p.Gln289HisfsTer15
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.204delA
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*481delA
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.984delA
  hgvsp: ENSP00000318868.3:p.Gln328HisfsTer15
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1307delA
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2565delA
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39683
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4339
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44884
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln328HisfsTer15
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: GT
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-18236571-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236571
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236571
    reference: chr 17
allele count: 1
allele frequency: 8.428576244900712e-6
allele num: 118644
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.549T>C
  hgvsp: ENST00000539052.1:c.549T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*460T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.963T>C
  hgvsp: ENST00000316694.3:c.963T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.846T>C
  hgvsp: ENST00000354098.3:c.846T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1286T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.183T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2586T>C
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr321Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/17-18236571-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236571
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236571
    reference: chr 17
allele count: 1
allele frequency: 8.428576244900712e-6
allele num: 118644
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1286T>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.183T>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.549T>G
  hgvsp: ENST00000539052.1:c.549T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*460T>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.963T>G
  hgvsp: ENST00000316694.3:c.963T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2586T>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.846T>G
  hgvsp: ENST00000354098.3:c.846T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12409
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44390
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr321Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-18236573-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236573
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236573
    reference: chr 17
allele count: 1
allele frequency: 8.432698632216282e-6
allele num: 118586
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.844A>G
  hgvsp: ENSP00000318805.3:p.Thr282Ala
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2588A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.961A>G
  hgvsp: ENSP00000318868.3:p.Thr321Ala
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.547A>G
  hgvsp: ENSP00000440089.1:p.Thr183Ala
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1284A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*458A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.181A>G
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr321Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

17-18236576-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236576
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236576
    reference: chr 17
allele count: 1
allele frequency: 8.440670526866655e-6
allele num: 118474
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2591A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.178A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.841A>G
  hgvsp: ENSP00000318805.3:p.Met281Val
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1281A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.544A>G
  hgvsp: ENSP00000440089.1:p.Met182Val
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.958A>G
  hgvsp: ENSP00000318868.3:p.Met320Val
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*455A>G
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4275
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met320Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ

17-18236595-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236595
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236595
    reference: chr 17
allele count: 1
allele frequency: 8.477306251165629e-6
allele num: 117962
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.159T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.525T>C
  hgvsp: ENST00000539052.1:c.525T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2610T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1262T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.822T>C
  hgvsp: ENST00000354098.3:c.822T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*436T>C
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.939T>C
  hgvsp: ENST00000316694.3:c.939T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44492
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2718
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala313Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

17-18236600-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236600
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236600
    reference: chr 17
allele count: 1
allele frequency: 8.488099684242691e-6
allele num: 117812
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2615G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.520G>A
  hgvsp: ENSP00000440089.1:p.Val174Ile
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1257G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.154G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.817G>A
  hgvsp: ENSP00000318805.3:p.Val273Ile
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.934G>A
  hgvsp: ENSP00000318868.3:p.Val312Ile
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*431G>A
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37789
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2934
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val312Ile
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: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-18236603-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236603
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236603
    reference: chr 17
allele count: 1
allele frequency: 8.494300324482272e-6
allele num: 117726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.815-1G>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.932-1G>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*429-1G>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1255-1G>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.518-1G>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2618G>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.151G>T
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: splice acceptor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4200
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3078
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
hgvs: c.932-1G>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

17-18236604-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236604
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236604
    reference: chr 17
allele count: 1
allele frequency: 8.498342823149486e-6
allele num: 117670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*429-2A>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.815-2A>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.932-2A>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1255-2A>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.150A>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2619A>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.518-2A>T
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
hgvs: c.932-2A>T
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

17-18236614-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236614
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236614
    reference: chr 17
allele count: 1
allele frequency: 8.520790729379687e-6
allele num: 117360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*429-12C>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.140C>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.815-12C>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.932-12C>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1255-12C>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2629C>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.518-12C>G
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35599
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41833
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

17-18236616-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236616
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236616
    reference: chr 17
allele count: 12
allele frequency: 1.022983018481893e-4
allele num: 117304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.815-14C>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2631C>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.518-14C>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.138C>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.932-14C>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*429-14C>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1255-14C>G
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35343
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12193
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3995
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-18236629-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236629
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236629
    reference: chr 17
allele count: 1
allele frequency: 8.560324607509117e-6
allele num: 116818
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.932-27C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2644C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.815-27C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.518-27C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*429-27C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.125C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1255-27C>T
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8062
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36005
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

17-18236632-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236632
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236632
    reference: chr 17
allele count: 1
allele frequency: 8.577800651912849e-6
allele num: 116580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.815-30C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.932-30C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1255-30C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2647C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.122C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*429-30C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.518-30C>T
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5348
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

17-18236636-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236636
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236636
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 116424
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2651C>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.518-34C>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1255-34C>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.118C>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*429-34C>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.815-34C>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.932-34C>G
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9829
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8806
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4323
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4974
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

17-18236645-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236645
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236643
    reference: chr 17
allele count: 3
allele frequency: 2.591210613598673e-5
allele num: 115776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.107_108delAT
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1255-45_1255-44delAT
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.932-45_932-44delAT
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*429-45_*429-44delAT
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2662_815-2661delAT
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.815-45_815-44delAT
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.518-45_518-44delAT
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8828
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13974
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6302
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2826
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5490
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: CAT
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP

17-18236651-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236651
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236651
    reference: chr 17
allele count: 1
allele frequency: 8.694744896184747e-6
allele num: 115012
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.518-49G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*429-49G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.815-49G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.103G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2666G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1255-49G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.932-49G>A
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13820
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8712
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5634
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6898
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3611
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6085
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

17-18236652-AGAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18236652
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18236649
    reference: chr 17
allele count: 3
allele frequency: 2.60719934646203e-5
allele num: 115066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.815-2670_815-2668delATC
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1255-53_1255-51delATC
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000582352
  gene symbol: SHMT1
  hgvsc: ENST00000582352.1:n.99_101delATC
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.932-53_932-51delATC
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.518-53_518-51delATC
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*429-53_*429-51delATC
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.815-53_815-51delATC
  variant of: http://identifiers.org/hgnc/10850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7867
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13786
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3694
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3170
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: AGAT
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

17-18238827-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18238827
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18238827
    reference: chr 17
allele count: 1
allele frequency: 8.276090374906894e-6
allele num: 120830
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1254+46A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.931+46A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.815-2225A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*428+46A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.814+4530A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.517+46A>G
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32948
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-18238839-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18238839
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18238839
    reference: chr 17
allele count: 1
allele frequency: 8.267469162340024e-6
allele num: 120956
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.931+34C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*428+34C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.815-2237C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1254+34C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.517+34C>T
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.814+4518C>T
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32948
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-18238839-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18238839
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18238839
    reference: chr 17
allele count: 1
allele frequency: 8.267469162340024e-6
allele num: 120956
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.815-2237C>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.931+34C>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1254+34C>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.517+34C>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.814+4518C>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*428+34C>A
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32948
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53690
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

17-18238848-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18238848
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18238848
    reference: chr 17
allele count: 4
allele frequency: 3.303491790822899e-5
allele num: 121084
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*428+25A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1254+25A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.815-2246A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.931+25A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.517+25A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.814+4509A>G
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32946
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53702
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

17-18238872-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18238872
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18238872
    reference: chr 17
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.931+1G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.517+1G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.814+4485G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*428+1G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.815-2270G>A
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1254+1G>A
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32944
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: c.931+1G>A
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

17-18238879-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18238879
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 18238879
    reference: chr 17
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000462043
  ensembl transcript: ENST00000580002
  gene symbol: SHMT1
  hgvsc: ENST00000580002.1:c.*422A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000440089
  ensembl transcript: ENST00000539052
  gene symbol: SHMT1
  hgvsc: ENST00000539052.1:c.511A>G
  hgvsp: ENSP00000440089.1:p.Ile171Val
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000345881
  ensembl transcript: ENST00000352886
  gene symbol: SHMT1
  hgvsc: ENST00000352886.6:c.814+4478A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176974
  ensembl transcript: ENST00000395684
  gene symbol: SHMT1
  hgvsc: ENST00000395684.1:n.1248A>G
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318868
  ensembl transcript: ENST00000316694
  gene symbol: SHMT1
  hgvsc: ENST00000316694.3:c.925A>G
  hgvsp: ENSP00000318868.3:p.Ile309Val
  variant of: http://identifiers.org/hgnc/10850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176974
  ensembl protein: ENSP00000318805
  ensembl transcript: ENST00000354098
  gene symbol: SHMT1
  hgvsc: ENST00000354098.3:c.815-2277A>G
  variant of: http://identifiers.org/hgnc/10850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32944
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile309Val
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 933
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1650
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2504
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2168
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.567044208987943e-5
allele num: 21896
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2234
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1950
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.44584e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.59e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 3.16e0

VQSLOD
type: SiteQuality
SIO_000300: -1.808e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2103
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4162
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3746
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7138
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.9329819869425e-5
allele num: 25426
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2278
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.21e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.868e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

DP
type: SiteQuality
SIO_000300: 7.0928e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.62e-1

QD
type: SiteQuality
SIO_000300: 4.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

GenotypeQuality
all individuals: 441
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1210
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4408
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8331
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30619
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2628
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3070
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 1.284521515735388e-3
allele num: 3114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27928
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.755e0

MQRankSum
type: SiteQuality
SIO_000300: -3.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.199e0

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 4.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.39637e5

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 408
bin: 8.25e1
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GenotypeQuality
all individuals: 220
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29942
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3440
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.46969696969697e-5
allele num: 10560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2838
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.17e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.44e0

DP
type: SiteQuality
SIO_000300: 7.6907e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.047e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10700
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3420
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.831257078142696e-4
allele num: 3532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 8.203445447087777e-4
allele num: 4876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2920
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30764
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.13e-1

FS
type: SiteQuality
SIO_000300: 4.43e0

QD
type: SiteQuality
SIO_000300: 1.464e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 7.84159e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 186
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.074085459575776e-5
allele num: 32530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3082
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5140
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3616
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.734e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.164e0

QD
type: SiteQuality
SIO_000300: 9.08e0

DP
type: SiteQuality
SIO_000300: 8.13984e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 13

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3552
num of homozygotes: 0

East Asian
type: Population
allele count: 15
allele frequency: 3.499766682221185e-3
allele num: 4286
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4710
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

FS
type: SiteQuality
SIO_000300: 3.867e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.164e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

DP
type: SiteQuality
SIO_000300: 8.84699e5

MQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.457e0

GenotypeQuality
all individuals: 712
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.17004470292088e-5
allele num: 46082
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7056
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5652
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.406e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

MQ
type: SiteQuality
SIO_000300: 5.616e1

MQRankSum
type: SiteQuality
SIO_000300: 1.97e0

QD
type: SiteQuality
SIO_000300: 1.41e1

FS
type: SiteQuality
SIO_000300: 3.399e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.49e-1

DP
type: SiteQuality
SIO_000300: 1.027549e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.45e-1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5424
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.790959237767748e-5
allele num: 55836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8952
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14090
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

DP
type: SiteQuality
SIO_000300: 1.195406e6

MQ
type: SiteQuality
SIO_000300: 5.834e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7320
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9088
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.043245527539091e-5
allele num: 14198
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5478
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58156
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5680
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African
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allele count: 1
allele frequency: 1.132246376811594e-4
allele num: 8832
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9534
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Latino
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
allele num: 8892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.129257283545343e-5
allele num: 58488
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5702
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14556
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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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.246684e6

QD
type: SiteQuality
SIO_000300: 1.348e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.693136026548373e-5
allele num: 59062
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.049e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.554e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.099999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 8.199999999999999e0

DP
type: SiteQuality
SIO_000300: 1.261846e6

GenotypeQuality
all individuals: 3240
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10846
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.720098178042104e-5
allele num: 63558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6272
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15670
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.352567e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.79e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 6.879999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.42e-1

QD
type: SiteQuality
SIO_000300: 1.194e1

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.017915309446254e-4
allele num: 9824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11040
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15876
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.86e0

QD
type: SiteQuality
SIO_000300: 1.085e1

VQSLOD
type: SiteQuality
SIO_000300: 8.44e-1

FS
type: SiteQuality
SIO_000300: 1.201e0

DP
type: SiteQuality
SIO_000300: 1.370235e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.2672348959639e-5
allele num: 15956
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64738
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11108
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.382e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.03e-1

DP
type: SiteQuality
SIO_000300: 1.377012e6

QD
type: SiteQuality
SIO_000300: 1.115e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.032e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.44e-1

GenotypeQuality
all individuals: 311
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1242
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variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10034
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.166462967489611e-5
allele num: 65456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16140
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11234
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

QD
type: SiteQuality
SIO_000300: 1.519e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

DP
type: SiteQuality
SIO_000300: 1.392192e6

MQ
type: SiteQuality
SIO_000300: 5.855e1

FS
type: SiteQuality
SIO_000300: 4.296e0

GenotypeQuality
all individuals: 161
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48911
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1247
bin: 7.25e1
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GenotypeQuality
all individuals: 1020
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10050
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52699731248473e-5
allele num: 65488
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.393164e6

VQSLOD
type: SiteQuality
SIO_000300: -1.867e0

MQ
type: SiteQuality
SIO_000300: 5.85e1

FS
type: SiteQuality
SIO_000300: 3.352e0

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.61e-1

QD
type: SiteQuality
SIO_000300: 9.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.61e-1

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.75e1
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GenotypeQuality
all individuals: 660
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515151515151515e-5
allele num: 66000
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16308
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 2.286e0

QD
type: SiteQuality
SIO_000300: 1.473e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.01e-1

DP
type: SiteQuality
SIO_000300: 1.406485e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.46e-1

GenotypeQuality
all individuals: 124
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49531
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 828
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GenotypeQuality
all individuals: 268
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1054
bin: 9.75e1
variant carriers: 32

GenotypeQuality
all individuals: 1219
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 32
allele frequency: 3.14774739327169e-3
allele num: 10166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16322
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66018
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.291e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

DP
type: SiteQuality
SIO_000300: 1.408187e6

VQSLOD
type: SiteQuality
SIO_000300: 4.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.75e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 266
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GenotypeQuality
all individuals: 666
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.790483649892304e-5
allele num: 10214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66206
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

FS
type: SiteQuality
SIO_000300: 7.687e0

QD
type: SiteQuality
SIO_000300: 1.703e1

MQRankSum
type: SiteQuality
SIO_000300: 7.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.412962e6

VQSLOD
type: SiteQuality
SIO_000300: -4.652e-1

GenotypeQuality
all individuals: 96
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 1239
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
all individuals: 102
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GenotypeQuality
all individuals: 4631
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GenotypeQuality
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GenotypeQuality
all individuals: 267
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variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66220
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.323420074349442e-4
allele num: 8608
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 2.413e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.901e0

FS
type: SiteQuality
SIO_000300: 2.474e0

VQSLOD
type: SiteQuality
SIO_000300: -2.277e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

DP
type: SiteQuality
SIO_000300: 1.41363e6

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

GenotypeQuality
all individuals: 662
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variant carriers: 0

GenotypeQuality
all individuals: 1316
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
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GenotypeQuality
all individuals: 1031
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 96
bin: 2.75e1
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GenotypeQuality
all individuals: 270
bin: 9.25e1
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GenotypeQuality
all individuals: 1238
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.549448890231014e-5
allele num: 66230
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.788566953797964e-5
allele num: 10216
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.121e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 2.543e0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

MQRankSum
type: SiteQuality
SIO_000300: 5.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.413976e6

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 108
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.358572593062223e-4
allele num: 66246
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.386e0

DP
type: SiteQuality
SIO_000300: 1.414502e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.924e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.112e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.74737578726382e-5
allele num: 11432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

QD
type: SiteQuality
SIO_000300: 9.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.001e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.41528e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
SIO_000300: 7.12e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 667
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50934283213089e-5
allele num: 66254
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.019e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

DP
type: SiteQuality
SIO_000300: 1.415167e6

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.01e-1

FS
type: SiteQuality
SIO_000300: 5.695e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

VQSLOD
type: SiteQuality
SIO_000300: -5.699e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.197e0

GenotypeQuality
all individuals: 198
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 266
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1316
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.075e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.661e0

MQRankSum
type: SiteQuality
SIO_000300: -8.090000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.83e-1

QD
type: SiteQuality
SIO_000300: 3.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 1.415882e6

GenotypeQuality
all individuals: 104
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
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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: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
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variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.589e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.74e0

MQRankSum
type: SiteQuality
SIO_000300: 9.15e-1

DP
type: SiteQuality
SIO_000300: 1.417035e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.151e0

QD
type: SiteQuality
SIO_000300: 9.77e0

MQ
type: SiteQuality
SIO_000300: 5.581e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 80

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

African
type: Population
allele count: 79
allele frequency: 7.716350849775347e-3
allele num: 10238
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66328
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.736676568233443e-5
allele num: 11446
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.420241e6

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 5.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.966e0

QD
type: SiteQuality
SIO_000300: 1.203e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.729050279329609e-5
allele num: 11456
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66332
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.869e1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -5.854e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66350
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6580
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.745200698080279e-4
allele num: 11460
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10252
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507204437209863e-5
allele num: 66348
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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.420075e6

MQ
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.52e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.13e0

VQSLOD
type: SiteQuality
SIO_000300: -8.076e-1

QD
type: SiteQuality
SIO_000300: 1.414e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1330
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.649191095973726e-4
allele num: 16442
num of homozygotes: 1

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

MQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.84e-1

FS
type: SiteQuality
SIO_000300: 8.909000000000001e0

QD
type: SiteQuality
SIO_000300: 1.414e1

VQSLOD
type: SiteQuality
SIO_000300: -8.076e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.52e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

DP
type: SiteQuality
SIO_000300: 1.420075e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.13e0

GenotypeQuality
all individuals: 566
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.014499743767522e-5
allele num: 66346
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.082725060827251e-5
allele num: 16440
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

DP
type: SiteQuality
SIO_000300: 1.420133e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.429e0

QD
type: SiteQuality
SIO_000300: 1.162e1

GenotypeQuality
all individuals: 49872
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.015135982632817e-5
allele num: 66332
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0423e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.173e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.01e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 1.315e1

DP
type: SiteQuality
SIO_000300: 1.419532e6

GenotypeQuality
all individuals: 269
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5

GenotypeQuality
all individuals: 1224
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.621002970470033e-4
allele num: 11446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.019050206804939e-5
allele num: 66246
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

DP
type: SiteQuality
SIO_000300: 1.418037e6

QD
type: SiteQuality
SIO_000300: 1.325e1

FS
type: SiteQuality
SIO_000300: 5.026e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4653
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1042
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variant carriers: 1

GenotypeQuality
all individuals: 170
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.792401096748923e-5
allele num: 10212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66246
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.026e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

DP
type: SiteQuality
SIO_000300: 1.418037e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

QD
type: SiteQuality
SIO_000300: 1.325e1

GenotypeQuality
all individuals: 196
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 793
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variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 165
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1223
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GenotypeQuality
all individuals: 1038
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variant carriers: 1

GenotypeQuality
all individuals: 266
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509570678099149e-5
allele num: 66244
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 3.95e0

QD
type: SiteQuality
SIO_000300: 1.207e1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.418535e6

GenotypeQuality
all individuals: 143
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49325
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 793
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66244
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.092360180333861e-5
allele num: 16414
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

FS
type: SiteQuality
SIO_000300: 3.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

DP
type: SiteQuality
SIO_000300: 1.418535e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 1.207e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 8
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1312
bin: 7.25e1
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GenotypeQuality
all individuals: 660
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509707418702255e-5
allele num: 66238
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.219066195294405e-4
allele num: 16406
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.747640685075148e-4
allele num: 11444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
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Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.15e-1

DP
type: SiteQuality
SIO_000300: 1.418508e6

MQRankSum
type: SiteQuality
SIO_000300: 3.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.75e0

QD
type: SiteQuality
SIO_000300: 1.318e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4635
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.742787200559538e-5
allele num: 11438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
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: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66218
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-1

DP
type: SiteQuality
SIO_000300: 1.41693e6

QD
type: SiteQuality
SIO_000300: 9.83e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 999
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GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 235
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GenotypeQuality
all individuals: 255
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GenotypeQuality
all individuals: 243
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GenotypeQuality
all individuals: 1298
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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: 0
allele frequency: 0.0e0
allele num: 66124
num of homozygotes: 0

African
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allele count: 98
allele frequency: 9.630503144654088e-3
allele num: 10176
num of homozygotes: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

Latino
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allele frequency: 3.502626970227671e-4
allele num: 11420
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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QD
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FS
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MQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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DP
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.113964294448521e-5
allele num: 16356
num of homozygotes: 0

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

VQSLOD
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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FS
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MQ
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MQRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 12

European (Finnish)
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allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8582
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65880
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South Asian
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allele frequency: 7.343941248470012e-4
allele num: 16340
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Latino
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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

FS
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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DP
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VQSLOD
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MQ
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BaseQRankSum
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MQRankSum
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6580
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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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.038682427299523e-5
allele num: 65818
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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ReadPosRankSum
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MQ
type: SiteQuality
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QD
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 9.340000000000001e-1

ClippingRankSum
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SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.219e0

DP
type: SiteQuality
SIO_000300: 1.404687e6

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 16290
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.98373338623289e-4
allele num: 10082
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65790
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Other
type: Population
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

DP
type: SiteQuality
SIO_000300: 1.402447e6

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.067e0

MQ
type: SiteQuality
SIO_000300: 5.921e1

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65672
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

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

African
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allele frequency: 9.964129135113592e-5
allele num: 10036
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.248e0

MQ
type: SiteQuality
SIO_000300: 6.03e1

QD
type: SiteQuality
SIO_000300: 1.536e1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.352e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

East Asian
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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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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.522579859313621e-5
allele num: 65678
num of homozygotes: 0

Latino
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num of homozygotes: 0

FS
type: SiteQuality
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MQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.832361773538245e-5
allele num: 11322
num of homozygotes: 0

European (Finnish)
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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InbreedingCoeff
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DP
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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MQ
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ClippingRankSum
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VQSLOD
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FS
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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Other
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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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ClippingRankSum
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DP
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MQRankSum
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VQSLOD
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QD
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FS
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InbreedingCoeff
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MQ
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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South Asian
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allele num: 16150
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6560
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Latino
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Other
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allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.143e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

DP
type: SiteQuality
SIO_000300: 1.385098e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: 4.94e-1

QD
type: SiteQuality
SIO_000300: 1.101e1

GenotypeQuality
all individuals: 637
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4295
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.871540099361249e-5
allele num: 11272
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16150
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

QD
type: SiteQuality
SIO_000300: 1.101e1

DP
type: SiteQuality
SIO_000300: 1.385098e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 2.143e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 819
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variant carriers: 0

GenotypeQuality
all individuals: 4280
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9892
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530784067599424e-5
allele num: 65326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16132
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.467e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.383503e6

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.519e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16104
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65264
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.012350678274954e-4
allele num: 9878
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 1.166e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.17e0

DP
type: SiteQuality
SIO_000300: 1.381911e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.084e0

FS
type: SiteQuality
SIO_000300: 4.012e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 263
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1058
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variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64956
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.235191420376606e-5
allele num: 16038
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 1.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.003e0

MQRankSum
type: SiteQuality
SIO_000300: 4.99e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.57e-2

DP
type: SiteQuality
SIO_000300: 1.3754e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 8.56e0

GenotypeQuality
all individuals: 4232
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variant carriers: 0

GenotypeQuality
all individuals: 52
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 684
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variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.936550491510277e-5
allele num: 11190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16004
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.52e-1

QD
type: SiteQuality
SIO_000300: 8.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.01e-1

DP
type: SiteQuality
SIO_000300: 1.370403e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.01e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 607
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GenotypeQuality
all individuals: 1139
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.175364362952515e-4
allele num: 8508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15992
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64856
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.368274e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 1.199e0

VQSLOD
type: SiteQuality
SIO_000300: -3.629e0

QD
type: SiteQuality
SIO_000300: 1.877e1

MQRankSum
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SIO_000300: 2.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.285e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.969e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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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: 4205
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64820
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15980
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.175917215428034e-4
allele num: 8504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11180
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.75e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.93e-1

DP
type: SiteQuality
SIO_000300: 1.366398e6

FS
type: SiteQuality
SIO_000300: 1.189e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.919e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

MQ
type: SiteQuality
SIO_000300: 5.905e1

VQSLOD
type: SiteQuality
SIO_000300: -2.052e0

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: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1036
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15938
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54640769492469e-5
allele num: 64666
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.093e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.126e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.345063e6

QD
type: SiteQuality
SIO_000300: 6.74e0

GenotypeQuality
all individuals: 473
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3914
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GenotypeQuality
all individuals: 1079
bin: 7.25e1
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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
all individuals: 352
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11140
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.85649308456326e-4
allele num: 64638
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.062e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
type: SiteQuality
SIO_000300: 5.706e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

GenotypeQuality
all individuals: 534
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
all individuals: 263
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GenotypeQuality
all individuals: 5190
bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 659
bin: 4.75e1
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GenotypeQuality
all individuals: 548
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GenotypeQuality
all individuals: 600
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2358
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3664
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9688
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15866
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.185395922238028e-4
allele num: 8436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11078
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.74e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.432e0

VQSLOD
type: SiteQuality
SIO_000300: -7.706e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.67e-1

FS
type: SiteQuality
SIO_000300: 1.125e0

DP
type: SiteQuality
SIO_000300: 1.287952e6

QD
type: SiteQuality
SIO_000300: 9.609999999999999e0

GenotypeQuality
all individuals: 1063
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.316321374431532e-5
allele num: 15832
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11064
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
type: SiteQuality
SIO_000300: 4.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-1

QD
type: SiteQuality
SIO_000300: 1.452e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.448e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e-1

DP
type: SiteQuality
SIO_000300: 1.271323e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11028
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.250862e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.25e-1

QD
type: SiteQuality
SIO_000300: 6.29e0

VQSLOD
type: SiteQuality
SIO_000300: -1.258e0

MQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

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: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2915
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.695570511817186e-5
allele num: 63890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10964
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.647e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.427e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

DP
type: SiteQuality
SIO_000300: 1.218311e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 265
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.574803149606299e-5
allele num: 63500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9492
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.473e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

FS
type: SiteQuality
SIO_000300: 3.358e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.016e0

DP
type: SiteQuality
SIO_000300: 1.215861e6

QD
type: SiteQuality
SIO_000300: 8.039999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3617
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variant carriers: 0

GenotypeQuality
all individuals: 5838
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.574456025443209e-5
allele num: 63514
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.405002405002405e-4
allele num: 8316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.009e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.43e-1

QD
type: SiteQuality
SIO_000300: 1.421e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.34e-1

DP
type: SiteQuality
SIO_000300: 1.216703e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

MQ
type: SiteQuality
SIO_000300: 5.852e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 379
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16160
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503081316699233e-5
allele num: 66530
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.981e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.443594e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.24e1

BaseQRankSum
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SIO_000300: 7.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.68e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66552
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.151574803149606e-5
allele num: 16256
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.82e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 6.452722e6

FS
type: SiteQuality
SIO_000300: 1.841e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.137e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.297e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.36e0

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16256
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66552
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.82e-1

DP
type: SiteQuality
SIO_000300: 6.452722e6

MQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2966
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.00672753483902e-5
allele num: 66592
num of homozygotes: 0

East Asian
type: Population
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: 6614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 706
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GenotypeQuality
all individuals: 1050
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: -6.19e-1

FS
type: SiteQuality
SIO_000300: 3.675e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.681e0

DP
type: SiteQuality
SIO_000300: 6.470924e6

QD
type: SiteQuality
SIO_000300: 1.189e1