4-8237215-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237215
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237215
    reference: chr 4
allele count: 2
allele frequency: 1.705815123756887e-5
allele num: 117246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3190T>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4322T>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.469T>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*556T>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1222T>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3338T>A
  hgvsp: ENSP00000245105.3:p.Phe1113Tyr
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.498T>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1449T>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3110T>A
  hgvsp: ENSP00000441045.1:p.Phe1037Tyr
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2443T>A
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7865
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4026
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe1113Tyr
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

4-8237216-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237216
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237216
    reference: chr 4
allele count: 558
allele frequency: 4.757195471286319e-3
allele num: 117296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2444T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3191T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*557T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.499T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3339T>C
  hgvsp: ENST00000245105.3:c.3339T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4323T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.470T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1450T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3111T>C
  hgvsp: ENST00000539824.1:c.3111T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1223T>C
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 10807
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9612
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 7798
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 9.75e1
  variant carriers: 408
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 9388
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe1113Phe
num of homozygotes: 11
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ

4-8237221-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237221
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237221
    reference: chr 4
allele count: 6
allele frequency: 5.114915092409466e-5
allele num: 117304
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3344C>T
  hgvsp: ENSP00000245105.3:p.Ala1115Val
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2449C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*562C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1228C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3196C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3116C>T
  hgvsp: ENSP00000441045.1:p.Ala1039Val
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.475C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4328C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1455C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.504C>T
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9456
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9645
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala1115Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

4-8237222-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237222
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237222
    reference: chr 4
allele count: 59
allele frequency: 5.025810518425132e-4
allele num: 117394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1229G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.476G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.505G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*563G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1456G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3197G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4329G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2450G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3117G>A
  hgvsp: ENST00000539824.1:c.3117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3345G>A
  hgvsp: ENST00000245105.3:c.3345G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9639
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4030
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala1115Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

4-8237223-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237223
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237223
    reference: chr 4
allele count: 3
allele frequency: 2.553408800749e-5
allele num: 117490
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.506G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3118G>A
  hgvsp: ENSP00000441045.1:p.Ala1040Thr
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1457G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4330G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2451G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1230G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*564G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.477G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3346G>A
  hgvsp: ENSP00000245105.3:p.Ala1116Thr
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3198G>A
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11428
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala1116Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/4-8237228-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237228
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237228
    reference: chr 4
allele count: 1
allele frequency: 8.505281779985371e-6
allele num: 117574
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3351A>C
  hgvsp: ENST00000245105.3:c.3351A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1235A>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3203A>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1462A>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3123A>C
  hgvsp: ENST00000539824.1:c.3123A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.482A>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4335A>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.511A>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*569A>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2456A>C
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly1117Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP

4-8237229-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237229
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237229
    reference: chr 4
allele count: 1
allele frequency: 8.499065102838687e-6
allele num: 117660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2457G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.483G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3204G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3124G>A
  hgvsp: ENSP00000441045.1:p.Asp1042Asn
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3352G>A
  hgvsp: ENSP00000245105.3:p.Asp1118Asn
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*570G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4336G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.512G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1463G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1236G>A
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10831
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4520
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp1118Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

4-8237232-ATCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237232
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237229
    reference: chr 4
allele count: 5
allele frequency: 4.249749264793377e-5
allele num: 117654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1472_1474delTTC
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.521_523delTTC
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1245_1247delTTC
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3133_3135delTTC
  hgvsp: ENSP00000441045.1:p.Phe1045del
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*579_*581delTTC
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3361_3363delTTC
  hgvsp: ENSP00000245105.3:p.Phe1121del
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.492_494delTTC
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2466_*2468delTTC
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4345_4347delTTC
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3213_*3215delTTC
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9508
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10738
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe1121del
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: ATCT
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

4-8237233-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237233
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237233
    reference: chr 4
allele count: 4
allele frequency: 3.40008840229846e-5
allele num: 117644
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2461T>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3208T>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*574T>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4340T>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3128T>A
  hgvsp: ENSP00000441045.1:p.Ile1043Asn
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1240T>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.516T>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3356T>A
  hgvsp: ENSP00000245105.3:p.Ile1119Asn
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1467T>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.487T>A
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9511
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile1119Asn
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

4-8237234-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237234
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237234
    reference: chr 4
allele count: 6
allele frequency: 5.100479445067836e-5
allele num: 117636
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1468C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*575C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2462C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4341C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3357C>T
  hgvsp: ENST00000245105.3:c.3357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3129C>T
  hgvsp: ENST00000539824.1:c.3129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3209C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.488C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.517C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1241C>T
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3402
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11358
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile1119Ile
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

4-8237236-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237236
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237236
    reference: chr 4
allele count: 1
allele frequency: 8.500799075113061e-6
allele num: 117636
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4343T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.490T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*577T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.519T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1470T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1243T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3131T>C
  hgvsp: ENSP00000441045.1:p.Phe1044Ser
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3359T>C
  hgvsp: ENSP00000245105.3:p.Phe1120Ser
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3211T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2464T>C
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe1120Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

4-8237240-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237240
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237240
    reference: chr 4
allele count: 11
allele frequency: 9.351037965214139e-5
allele num: 117634
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3135C>T
  hgvsp: ENST00000539824.1:c.3135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1247C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3363C>T
  hgvsp: ENST00000245105.3:c.3363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2468C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4347C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3215C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*581C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.494C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1474C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.523C>T
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10556
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Phe1121Phe
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

4-8237243-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237243
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237243
    reference: chr 4
allele count: 1
allele frequency: 8.502389171357152e-6
allele num: 117614
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1250C>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2471C>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4350C>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3138C>G
  hgvsp: ENSP00000441045.1:p.Asp1046Glu
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3218C>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3366C>G
  hgvsp: ENSP00000245105.3:p.Asp1122Glu
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1477C>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*584C>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.526C>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.497C>G
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp1122Glu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

4-8237243-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237243
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237243
    reference: chr 4
allele count: 16
allele frequency: 1.360382267417144e-4
allele num: 117614
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3366C>T
  hgvsp: ENST00000245105.3:c.3366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1477C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2471C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3218C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.497C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1250C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3138C>T
  hgvsp: ENST00000539824.1:c.3138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.526C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*584C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4350C>T
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 10465
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp1122Asp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum

4-8237244-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237244
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237244
    reference: chr 4
allele count: 5
allele frequency: 4.251917614844295e-5
allele num: 117594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3219G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4351G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*585G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2472G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3139G>A
  hgvsp: ENSP00000441045.1:p.Gly1047Arg
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.498G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1251G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.527G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3367G>A
  hgvsp: ENSP00000245105.3:p.Gly1123Arg
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1478G>A
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9655
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly1123Arg
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

4-8237247-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237247
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237247
    reference: chr 4
allele count: 1
allele frequency: 8.5090451149572e-6
allele num: 117522
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.501G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2475G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3222G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*588G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3142G>A
  hgvsp: ENSP00000441045.1:p.Ala1048Thr
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1481G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4354G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3370G>A
  hgvsp: ENSP00000245105.3:p.Ala1124Thr
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.530G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1254G>A
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4529
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala1124Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

4-8237251-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237251
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237251
    reference: chr 4
allele count: 2
allele frequency: 1.703519471227556e-5
allele num: 117404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3226G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3146G>A
  hgvsp: ENSP00000441045.1:p.Trp1049Ter
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*592G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.534G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1258G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2479G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4358G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3374G>A
  hgvsp: ENSP00000245105.3:p.Trp1125Ter
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.505G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1485G>A
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7807
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Trp1125Ter
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

4-8237255-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237255
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237255
    reference: chr 4
allele count: 1307
allele frequency: 1.11457906945013e-2
allele num: 117264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3150G>A
  hgvsp: ENST00000539824.1:c.3150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4362G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1262G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2483G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1489G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*596G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.509G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3378G>A
  hgvsp: ENST00000245105.3:c.3378G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3230G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.538G>A
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 9449
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 9327
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 6.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 9594
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 7679
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 9.75e1
  variant carriers: 970
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 6.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2319
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Glu1126Glu
num of homozygotes: 77
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

4-8237256-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237256
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237256
    reference: chr 4
allele count: 4
allele frequency: 3.412328743751173e-5
allele num: 117222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1263C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1490C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.539C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*597C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3151C>T
  hgvsp: ENSP00000441045.1:p.Arg1051Trp
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2484C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4363C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3231C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3379C>T
  hgvsp: ENSP00000245105.3:p.Arg1127Trp
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.510C>T
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3953
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg1127Trp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

4-8237257-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237257
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237257
    reference: chr 4
allele count: 3
allele frequency: 2.558504468854472e-5
allele num: 117256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3232G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3152G>A
  hgvsp: ENSP00000441045.1:p.Arg1051Gln
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.511G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2485G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3380G>A
  hgvsp: ENSP00000245105.3:p.Arg1127Gln
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*598G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1491G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4364G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1264G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.540G>A
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9596
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg1127Gln
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum

4-8237268-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237268
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237268
    reference: chr 4
allele count: 68
allele frequency: 5.817733821566681e-4
allele num: 116884
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.551G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1502G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3243G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3391G>A
  hgvsp: ENSP00000245105.3:p.Val1131Met
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4375G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3163G>A
  hgvsp: ENSP00000441045.1:p.Val1055Met
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*609G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2496G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1275G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.522G>A
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9263
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9471
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9037
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3349
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val1131Met
num of homozygotes: 1
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

4-8237272-CCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237272
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237269
    reference: chr 4
allele count: 1
allele frequency: 8.571183680466272e-6
allele num: 116670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3170_3172delTCT
  hgvsp: ENSP00000441045.1:p.Phe1057del
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3398_3400delTCT
  hgvsp: ENSP00000245105.3:p.Phe1133del
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2503_*2505delTCT
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1282_1284delTCT
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*616_*618delTCT
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.558_560delTCT
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1509_1511delTCT
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4382_4384delTCT
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3250_*3252delTCT
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.529_531delTCT
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9211
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe1133del
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: CCTT
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

4-8237280-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237280
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237280
    reference: chr 4
allele count: 1
allele frequency: 8.598156555234557e-6
allele num: 116304
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3403C>G
  hgvsp: ENSP00000245105.3:p.Arg1135Gly
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3175C>G
  hgvsp: ENSP00000441045.1:p.Arg1059Gly
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2508C>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.563C>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1514C>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.534C>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4387C>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3255C>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1287C>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*621C>G
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2655
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg1135Gly
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

4-8237280-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237280
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237280
    reference: chr 4
allele count: 1
allele frequency: 8.598156555234557e-6
allele num: 116304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1287C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*621C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.563C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2508C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4387C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3403C>T
  hgvsp: ENSP00000245105.3:p.Arg1135Trp
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.534C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3255C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3175C>T
  hgvsp: ENSP00000441045.1:p.Arg1059Trp
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1514C>T
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg1135Trp
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

4-8237281-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237281
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237281
    reference: chr 4
allele count: 4
allele frequency: 3.44044588178628e-5
allele num: 116264
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3404G>A
  hgvsp: ENSP00000245105.3:p.Arg1135Gln
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3256G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.535G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*622G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1515G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2509G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3176G>A
  hgvsp: ENSP00000441045.1:p.Arg1059Gln
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.564G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4388G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1288G>A
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9470
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9121
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg1135Gln
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

4-8237282-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237282
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237282
    reference: chr 4
allele count: 1
allele frequency: 8.598452278589854e-6
allele num: 116300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1516G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3405G>T
  hgvsp: ENST00000245105.3:c.3405G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.565G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1289G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4389G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3177G>T
  hgvsp: ENST00000539824.1:c.3177G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.536G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*623G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3257G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510G>T
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2655
  bin: 7.25e1
  variant carriers: 0
hgvs: c.3405G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS

4-8237285-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237285
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237285
    reference: chr 4
allele count: 1
allele frequency: 8.608370779746225e-6
allele num: 116166
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1516+3G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*623+3G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.539G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+3G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3177+3G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.568G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3257+3G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3405+3G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4389+3G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1292G>A
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 2.75e1
  variant carriers: 0
hgvs: c.3405+3G>A
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

4-8237288-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237288
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237288
    reference: chr 4
allele count: 2
allele frequency: 1.724078480052412e-5
allele num: 116004
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+6C>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3257+6C>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.542C>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3177+6C>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*623+6C>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4389+6C>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3405+6C>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1516+6C>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1295C>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.571C>G
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4352
  bin: 6.75e1
  variant carriers: 0
hgvs: c.3405+6C>G
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/4-8237293-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237293
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237293
    reference: chr 4
allele count: 1
allele frequency: 8.630063689870032e-6
allele num: 115874
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1300C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1516+11C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3177+11C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.547C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4389+11C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.576C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*623+11C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3257+11C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+11C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3405+11C>A
  variant of: http://identifiers.org/hgnc/26009
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

4-8237306-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237306
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237306
    reference: chr 4
allele count: 1
allele frequency: 8.676187336236963e-6
allele num: 115258
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.589T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4389+24T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+24T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1313T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3257+24T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*623+24T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.560T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1516+24T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3177+24T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3405+24T>C
  variant of: http://identifiers.org/hgnc/26009
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7722
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-8237308-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237308
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237308
    reference: chr 4
allele count: 1
allele frequency: 8.685079034219211e-6
allele num: 115140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3177+26G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3405+26G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1315G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3257+26G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4389+26G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1516+26G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+26G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000513495
  gene symbol: SH3TC1
  hgvsc: ENST00000513495.1:n.591G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.562G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*623+26G>A
  variant of: http://identifiers.org/hgnc/26009
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3926
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/4-8237317-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237317
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237316
    reference: chr 4
allele count: 3
allele frequency: 2.628028803195683e-5
allele num: 114154
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1325delA
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*623+36delA
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3177+36delA
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1516+36delA
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.572delA
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+36delA
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3257+36delA
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4389+36delA
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3405+36delA
  variant of: http://identifiers.org/hgnc/26009
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7953
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3923
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: CA
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

4-8237318-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237318
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237319
    reference: chr 4
allele count: 106
allele frequency: 9.313604892278494e-4
allele num: 113812
alternate allele: AG
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3405+43dupG
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4389+43dupG
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1332dupG
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.579dupG
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3177+43dupG
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*623+43dupG
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1516+43dupG
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+43dupG
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3257+43dupG
  variant of: http://identifiers.org/hgnc/26009
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 7.5e0
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7498
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 7694
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8803
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9358
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3904
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 2.75e1
  variant carriers: 2
num of homozygotes: 1
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS

4-8237318-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237318
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237318
    reference: chr 4
allele count: 58
allele frequency: 5.096123431624082e-4
allele num: 113812
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1516+36A>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3257+36A>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4389+36A>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1325A>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3405+36A>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*623+36A>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.572A>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+36A>G
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3177+36A>G
  variant of: http://identifiers.org/hgnc/26009
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7498
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9358
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7694
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3913
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

4-8237318-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237318
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237317
    reference: chr 4
allele count: 4
allele frequency: 3.514567883878677e-5
allele num: 113812
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3257+43delG
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3405+43delG
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1332delG
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4389+43delG
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*623+43delG
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3177+43delG
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.579delG
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+43delG
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1516+43delG
  variant of: http://identifiers.org/hgnc/26009
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25909
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: AG
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

4-8237320-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237320
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237320
    reference: chr 4
allele count: 1
allele frequency: 8.767622922073367e-6
allele num: 114056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.574G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4389+38G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3177+38G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+38G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1327G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*623+38G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3257+38G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1516+38G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3405+38G>A
  variant of: http://identifiers.org/hgnc/26009
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8813
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25909
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

4-8237320-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237320
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237320
    reference: chr 4
allele count: 25
allele frequency: 2.191905730518342e-4
allele num: 114056
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1516+38G>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1327G>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3177+38G>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3405+38G>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3257+38G>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4389+38G>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.574G>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+38G>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*623+38G>C
  variant of: http://identifiers.org/hgnc/26009
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9367
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7962
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP

4-8237320-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237320
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237320
    reference: chr 4
allele count: 4
allele frequency: 3.507049168829347e-5
allele num: 114056
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+38G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.574G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*623+38G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1516+38G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3257+38G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1327G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3177+38G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3405+38G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4389+38G>T
  variant of: http://identifiers.org/hgnc/26009
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3922
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3911
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

4-8237324-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237324
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237324
    reference: chr 4
allele count: 2
allele frequency: 1.759943681802182e-5
allele num: 113640
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4389+42G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3405+42G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3257+42G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*623+42G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+42G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1331G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.578G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3177+42G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1516+42G>A
  variant of: http://identifiers.org/hgnc/26009
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7696
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7724
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

4-8237324-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237324
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237324
    reference: chr 4
allele count: 2
allele frequency: 1.759943681802182e-5
allele num: 113640
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.578G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1516+42G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3257+42G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3405+42G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*623+42G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1331G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3177+42G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+42G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4389+42G>T
  variant of: http://identifiers.org/hgnc/26009
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3913
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

4-8237325-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237325
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237325
    reference: chr 4
allele count: 3
allele frequency: 2.641310089804543e-5
allele num: 113580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3177+43G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4389+43G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+43G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3405+43G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1516+43G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3257+43G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.579G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1332G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*623+43G>A
  variant of: http://identifiers.org/hgnc/26009
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4206
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

4-8237326-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237326
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237326
    reference: chr 4
allele count: 2
allele frequency: 1.762611485176437e-5
allele num: 113468
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1333C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3405+44C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*623+44C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1516+44C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3177+44C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4389+44C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+44C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.580C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3257+44C>T
  variant of: http://identifiers.org/hgnc/26009
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3921
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/4-8237328-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237328
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237328
    reference: chr 4
allele count: 24
allele frequency: 2.115357495416725e-4
allele num: 113456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1335C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+46C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3405+46C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3257+46C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1516+46C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4389+46C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3177+46C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.582C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*623+46C>A
  variant of: http://identifiers.org/hgnc/26009
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6034
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3914
  bin: 8.25e1
  variant carriers: 2
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

4-8237329-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237329
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237329
    reference: chr 4
allele count: 1
allele frequency: 8.817098116667842e-6
allele num: 113416
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3177+47C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4389+47C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+47C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.583C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1516+47C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3257+47C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1336C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3405+47C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*623+47C>T
  variant of: http://identifiers.org/hgnc/26009
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3345
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2323
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7645
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

4-8237972-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237972
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237972
    reference: chr 4
allele count: 4
allele frequency: 3.810249571346923e-4
allele num: 10498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3258-33C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.1226C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1517-33C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+690C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3406-33C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1979C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3178-33C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4390-33C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*624-33C>T
  variant of: http://identifiers.org/hgnc/26009
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12993
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35941
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3595
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9215
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

4-8237973-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237973
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237973
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 10834
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+691G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3178-32G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4390-32G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*624-32G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1517-32G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3406-32G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1980G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.1227G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3258-32G>A
  variant of: http://identifiers.org/hgnc/26009
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13410
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35647
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2976
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/4-8237986-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8237986
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8237986
    reference: chr 4
allele count: 1
allele frequency: 8.417508417508418e-5
allele num: 11880
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+704C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3258-19C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*624-19C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3178-19C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3406-19C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.1240C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1517-19C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.1993C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4390-19C>A
  variant of: http://identifiers.org/hgnc/26009
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

4-8238004-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8238004
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8238004
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 13896
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4390-1G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*624-1G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.2011G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1517-1G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3406-1G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3178-1G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3258-1G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+722G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.1258G>T
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: splice acceptor
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30933
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18018
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3429
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14676
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
hgvs: c.3406-1G>T
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

4-8238008-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8238008
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8238008
    reference: chr 4
allele count: 395
allele frequency: 2.7177652401266e-2
allele num: 14534
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.1262C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3181C>T
  hgvsp: ENSP00000441045.1:p.Arg1061Trp
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*627C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3409C>T
  hgvsp: ENSP00000245105.3:p.Arg1137Trp
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+726C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3261C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1520C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4393C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.2015C>T
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 18469
  bin: 7.5e0
  variant carriers: 287
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 2.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 1.25e1
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 2.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30128
  bin: 2.5e0
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 1.25e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 9.75e1
  variant carriers: 360
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 9.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 1.75e1
  variant carriers: 28
hgvs: p.Arg1137Trp
num of homozygotes: 18
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

4-8238009-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8238009
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8238009
    reference: chr 4
allele count: 1
allele frequency: 6.76132521974307e-5
allele num: 14790
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3410G>A
  hgvsp: ENSP00000245105.3:p.Arg1137Gln
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.2016G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4394G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*628G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1521G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.1263G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3182G>A
  hgvsp: ENSP00000441045.1:p.Arg1061Gln
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+727G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3262G>A
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30078
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18701
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg1137Gln
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

4-8238015-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8238015
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8238015
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 15508
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.1269T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*634T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.2022T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3188T>C
  hgvsp: ENSP00000441045.1:p.Leu1063Pro
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3416T>C
  hgvsp: ENSP00000245105.3:p.Leu1139Pro
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3268T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1527T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+733T>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4400T>C
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29328
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu1139Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

4-8238020-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8238020
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8238019
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 16090
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3422delT
  hgvsp: ENSP00000245105.3:p.Leu1141ArgfsTer3
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+739delT
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1533delT
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.2028delT
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4406delT
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3194delT
  hgvsp: ENSP00000441045.1:p.Leu1065ArgfsTer3
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3274delT
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*640delT
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.1275delT
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: frameshift
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29071
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu1141ArgfsTer3
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: CT
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

4-8238030-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8238030
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8238030
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 16962
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3203C>T
  hgvsp: ENSP00000441045.1:p.Thr1068Ile
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3283C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4415C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.1284C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3431C>T
  hgvsp: ENSP00000245105.3:p.Thr1144Ile
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.2037C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1542C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+748C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*649C>T
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19598
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28882
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16978
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr1144Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD

4-8238033-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8238033
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8238033
    reference: chr 4
allele count: 3
allele frequency: 1.750087504375219e-4
allele num: 17142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.2040C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*652C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4418C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+751C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1545C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3286C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3434C>T
  hgvsp: ENSP00000245105.3:p.Thr1145Met
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.1287C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3206C>T
  hgvsp: ENSP00000441045.1:p.Thr1069Met
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29068
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19229
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28097
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16429
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr1145Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

4-8238034-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8238034
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8238034
    reference: chr 4
allele count: 11
allele frequency: 6.335675613408593e-4
allele num: 17362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3287G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3207G>A
  hgvsp: ENST00000539824.1:c.3207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*653G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.1288G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.2041G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3435G>A
  hgvsp: ENST00000245105.3:c.3435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4419G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+752G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1546G>A
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19319
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28953
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 1.75e1
  variant carriers: 1
hgvs: p.Thr1145Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

4-8238041-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8238041
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8238041
    reference: chr 4
allele count: 40
allele frequency: 2.244668911335578e-3
allele num: 17820
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4426C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3214C>T
  hgvsp: ENSP00000441045.1:p.Arg1072Cys
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3294C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1553C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+759C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*660C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3442C>T
  hgvsp: ENSP00000245105.3:p.Arg1148Cys
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.1295C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.2048C>T
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17802
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29915
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29039
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg1148Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD

4-8238042-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8238042
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8238042
    reference: chr 4
allele count: 5
allele frequency: 2.817218841559612e-4
allele num: 17748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4427G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*661G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3443G>A
  hgvsp: ENSP00000245105.3:p.Arg1148His
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3215G>A
  hgvsp: ENSP00000441045.1:p.Arg1072His
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+760G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3295G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.2049G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1554G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.1296G>A
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17218
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29196
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2313
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5532
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg1148His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

4-8238042-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8238042
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8238042
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 17748
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+760G>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1554G>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3443G>C
  hgvsp: ENSP00000245105.3:p.Arg1148Pro
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4427G>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3215G>C
  hgvsp: ENSP00000441045.1:p.Arg1072Pro
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.2049G>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3295G>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*661G>C
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.1296G>C
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30269
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17218
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2313
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg1148Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

4-8238043-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8238043
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8238043
    reference: chr 4
allele count: 3
allele frequency: 1.675228947956221e-4
allele num: 17908
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3444C>T
  hgvsp: ENST00000245105.3:c.3444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3216C>T
  hgvsp: ENST00000539824.1:c.3216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.1297C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4428C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+761C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.2050C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*662C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3296C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1555C>T
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30367
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17207
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5639
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg1148Arg
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS

4-8238048-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8238048
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8238048
    reference: chr 4
allele count: 34
allele frequency: 1.89922913640934e-3
allele num: 17902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3301C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+766C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3221C>T
  hgvsp: ENSP00000441045.1:p.Ala1074Val
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3449C>T
  hgvsp: ENSP00000245105.3:p.Ala1150Val
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4433C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.2055C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.1302C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1560C>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*667C>T
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 15921
  bin: 7.5e0
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31152
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5544
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29915
  bin: 7.5e0
  variant carriers: 2
hgvs: p.Ala1150Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

4-8238049-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8238049
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8238049
    reference: chr 4
allele count: 6
allele frequency: 3.331852509995558e-4
allele num: 18008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+767G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3222G>A
  hgvsp: ENST00000539824.1:c.3222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*668G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3450G>A
  hgvsp: ENST00000245105.3:c.3450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.2056G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.1303G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3302G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1561G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4434G>A
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15868
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5103
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13013
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala1150Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

4-8238049-GGAGCTGCGGCTGTGCAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8238049
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8238032
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 18008
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsp: ENSP00000441045.1:p.Glu1075GlnfsTer73
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsp: ENSP00000245105.3:p.Glu1151GlnfsTer73
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15868
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13013
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Glu1151GlnfsTer73
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: GGAGCTGCGGCTGTGCAA
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/4-8238056-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8238056
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8238056
    reference: chr 4
allele count: 1
allele frequency: 5.548773721007657e-5
allele num: 18022
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.1310C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*675C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3229C>A
  hgvsp: ENST00000539824.1:c.3229C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3457C>A
  hgvsp: ENST00000245105.3:c.3457C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.2063C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+774C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3309C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1568C>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4441C>A
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31883
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg1153Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

4-8238057-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8238057
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8238057
    reference: chr 4
allele count: 5
allele frequency: 2.763041556145005e-4
allele num: 18096
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3458G>A
  hgvsp: ENSP00000245105.3:p.Arg1153Gln
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*676G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3310G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3230G>A
  hgvsp: ENSP00000441045.1:p.Arg1077Gln
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.1311G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.2064G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1569G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4442G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+775G>A
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14613
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5057
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32068
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 1.75e1
  variant carriers: 1
hgvs: p.Arg1153Gln
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

4-8238058-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8238058
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8238058
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 18156
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3231G>T
  hgvsp: ENST00000539824.1:c.3231G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1570G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4443G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+776G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*677G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3459G>T
  hgvsp: ENST00000245105.3:c.3459G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.2065G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.1312G>T
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3311G>T
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32238
  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: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14379
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg1153Arg
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS

4-8238061-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8238061
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8238061
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 18214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4446G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.1315G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3234G>A
  hgvsp: ENST00000539824.1:c.3234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1573G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*680G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.2068G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+779G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3462G>A
  hgvsp: ENST00000245105.3:c.3462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3314G>A
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32676
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13708
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11628
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 6.75e1
  variant carriers: 1
hgvs: p.Leu1154Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

4-8238070-G-GGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8238070
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8238072
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 17910
alternate allele: GGC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3243_3244insGC
  hgvsp: ENSP00000441045.1:p.Leu1082AlafsTer23
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*689_*690insGC
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3471_3472insGC
  hgvsp: ENSP00000245105.3:p.Leu1158AlafsTer23
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3323_*3324insGC
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4455_4456insGC
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.1324_1325insGC
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.2077_2078insGC
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+788_*2510+789insGC
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1582_1583insGC
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33907
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu1158AlafsTer23
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

4-8238072-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8238072
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8238072
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 17748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3245T>A
  hgvsp: ENSP00000441045.1:p.Leu1082Gln
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3473T>A
  hgvsp: ENSP00000245105.3:p.Leu1158Gln
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*691T>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.2079T>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1584T>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.1326T>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3325T>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+790T>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4457T>A
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34261
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10893
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu1158Gln
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD

4-8238073-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8238073
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8238073
    reference: chr 4
allele count: 1
allele frequency: 5.62429696287964e-5
allele num: 17780
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000508183
  gene symbol: SH3TC1
  hgvsc: ENST00000508183.1:n.1327G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3474G>A
  hgvsp: ENST00000245105.3:c.3474G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+791G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000441045
  ensembl transcript: ENST00000539824
  gene symbol: SH3TC1
  hgvsc: ENST00000539824.1:c.3246G>A
  hgvsp: ENST00000539824.1:c.3246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000423583
  ensembl transcript: ENST00000511002
  gene symbol: SH3TC1
  hgvsc: ENST00000511002.1:c.*692G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000506360
  gene symbol: SH3TC1
  hgvsc: ENST00000506360.1:n.4458G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.2080G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425079
  ensembl transcript: ENST00000515682
  gene symbol: SH3TC1
  hgvsc: ENST00000515682.1:c.*3326G>A
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502350
  gene symbol: SH3TC1
  hgvsc: ENST00000502350.1:n.1585G>A
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10871
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34280
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33475
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.75e1
  variant carriers: 2
hgvs: p.Leu1158Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

4-8238074-GTGGCAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 8238074
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 8238068
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 17712
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000245105
  ensembl transcript: ENST00000245105
  gene symbol: SH3TC1
  hgvsc: ENST00000245105.3:c.3478_3483delGCACTG
  hgvsp: ENSP00000245105.3:p.Ala1160_Leu1161del
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125089
  ensembl protein: ENSP00000425970
  ensembl transcript: ENST00000502669
  gene symbol: SH3TC1
  hgvsc: ENST00000502669.1:c.*2510+795_*2510+800delGCACTG
  variant of: http://identifiers.org/hgnc/26009
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125089
  ensembl transcript: ENST00000502559
  gene symbol: SH3TC1
  hgvsc: ENST00000502559.1:n.2084_2089delGCACTG
  variant of: http://identifiers.org/hgnc/26009
canonical: true
consequence: inframe deletion
filter: AC_Adj0_Filter
hgvs: p.Ala1160_Leu1161del
num of homozygotes: 0
reference allele: GTGGCAC

GenotypeQuality
all individuals: 137
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 159
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11280
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4063
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4530
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2057
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25055
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3431
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2377
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14024
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.936858415649816e-4
allele num: 10326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65258
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e-2

FS
type: SiteQuality
SIO_000300: 1.182e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-1

QD
type: SiteQuality
SIO_000300: 1.356e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

DP
type: SiteQuality
SIO_000300: 2.160479e6

GenotypeQuality
all individuals: 127
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4489
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3988
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2357
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3395
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2036
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4022
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11191
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2720
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25386
bin: 9.75e1
variant carriers: 547

South Asian
type: Population
allele count: 7
allele frequency: 4.983625231382601e-4
allele num: 14046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.660252481921804e-5
allele num: 65272
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.629629629629629e-3
allele num: 864
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

African
type: Population
allele count: 522
allele frequency: 5.049332559489263e-2
allele num: 10338
num of homozygotes: 11

Latino
type: Population
allele count: 20
allele frequency: 1.733402669440111e-3
allele num: 11538
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.71e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

DP
type: SiteQuality
SIO_000300: 2.213972e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.34e-1

QD
type: SiteQuality
SIO_000300: 1.418e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.08e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeQuality
all individuals: 3405
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4030
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3997
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2363
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11295
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2725
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25261
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 174
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4491
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2004
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.41622999575131e-4
allele num: 14122
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.733102253032929e-4
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.678668215253581e-5
allele num: 10332
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.952e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.333e0

DP
type: SiteQuality
SIO_000300: 2.194367e6

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.794e0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 1.949e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

QD
type: SiteQuality
SIO_000300: 1.011e1

GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2726
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25301
bin: 9.75e1
variant carriers: 59

GenotypeQuality
all individuals: 2360
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11427
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3403
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3996
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4502
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65248
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.048209754722301e-5
allele num: 14188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

African
type: Population
allele count: 58
allele frequency: 5.613627564847077e-3
allele num: 10332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 1.148e0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

DP
type: SiteQuality
SIO_000300: 2.199405e6

QD
type: SiteQuality
SIO_000300: 1.18e1

GenotypeQuality
all individuals: 3996
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2727
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25339
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2360
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3403
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4036
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4504
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1976
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 2.112378538234052e-4
allele num: 14202
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.871e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.235e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.212e1

VQSLOD
type: SiteQuality
SIO_000300: -1.035e0

DP
type: SiteQuality
SIO_000300: 2.196696e6

GenotypeQuality
all individuals: 4501
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2719
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11446
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3995
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3404
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4035
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2360
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25339
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1937
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.676795045480937e-5
allele num: 10334
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.423e0

QD
type: SiteQuality
SIO_000300: 1.027e1

MQRankSum
type: SiteQuality
SIO_000300: -7.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.987e1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e-1

DP
type: SiteQuality
SIO_000300: 2.197855e6

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14320
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530128224745234e-5
allele num: 65354
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: 6610
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.46e-1

FS
type: SiteQuality
SIO_000300: 5.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.731e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 9.49e0

DP
type: SiteQuality
SIO_000300: 2.198159e6

MQRankSum
type: SiteQuality
SIO_000300: 2.68e0

VQSLOD
type: SiteQuality
SIO_000300: -2.405e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.17e-1

GenotypeQuality
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variant carriers: 5

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

African
type: Population
allele count: 1
allele frequency: 9.674922600619196e-5
allele num: 10336
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.396648044692737e-4
allele num: 14320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.060256449490467e-5
allele num: 65354
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.807e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

FS
type: SiteQuality
SIO_000300: 3.223e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.08e-1

QD
type: SiteQuality
SIO_000300: 1.814e1

DP
type: SiteQuality
SIO_000300: 2.19796e6

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4

GenotypeQuality
all individuals: 134
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.935733643050716e-4
allele num: 10332
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.060350104051904e-5
allele num: 65352
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14322
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.281e1

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 1.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.02e-1

DP
type: SiteQuality
SIO_000300: 2.198389e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

GenotypeQuality
all individuals: 132
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4522
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1960
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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: 2721
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14308
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.18105031215571e-5
allele num: 65352
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

QD
type: SiteQuality
SIO_000300: 1.21e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.93e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

FS
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

DP
type: SiteQuality
SIO_000300: 2.19904e6

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14304
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530128224745234e-5
allele num: 65354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.198894e6

FS
type: SiteQuality
SIO_000300: 4.961e0

BaseQRankSum
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SIO_000300: 2.99e0

ClippingRankSum
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SIO_000300: -1.64e-1

QD
type: SiteQuality
SIO_000300: 1.649e1

MQRankSum
type: SiteQuality
SIO_000300: 7.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -9.626e-1

MQ
type: SiteQuality
SIO_000300: 5.887e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 11

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.119202056051891e-5
allele num: 65368
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.732801940738174e-4
allele num: 11542
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.935733643050716e-4
allele num: 10332
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.399776035834267e-4
allele num: 14288
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

BaseQRankSum
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QD
type: SiteQuality
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MQRankSum
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DP
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65372
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14262
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.146e1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 2.200857e6

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

MQRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25365
bin: 9.75e1
variant carriers: 16

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.011639321273313e-5
allele num: 14262
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.315886984715146e-4
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.682677598972037e-4
allele num: 65372
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.732501732501733e-4
allele num: 11544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.746e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

DP
type: SiteQuality
SIO_000300: 2.200857e6

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.146e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.49e-1

GenotypeQuality
all individuals: 102
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

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: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14256
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.119763777118203e-5
allele num: 65362
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

FS
type: SiteQuality
SIO_000300: 5.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

DP
type: SiteQuality
SIO_000300: 2.199442e6

VQSLOD
type: SiteQuality
SIO_000300: 6.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

QD
type: SiteQuality
SIO_000300: 1.13e1

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 106
bin: 3.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530596626565035e-5
allele num: 65334
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14210
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.238e1

VQSLOD
type: SiteQuality
SIO_000300: 4.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

DP
type: SiteQuality
SIO_000300: 2.197608e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.18e0

GenotypeQuality
all individuals: 57
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4030
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3399
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2339
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14126
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.062693332516615e-5
allele num: 65302
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.983e1

VQSLOD
type: SiteQuality
SIO_000300: -1.221e-1

DP
type: SiteQuality
SIO_000300: 2.195284e6

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.269e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e0

QD
type: SiteQuality
SIO_000300: 1.079e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

GenotypeQuality
all individuals: 3936
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26046
bin: 9.75e1
variant carriers: 1226

GenotypeQuality
all individuals: 171
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
all individuals: 188
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GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 2470
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variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 67
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variant carriers: 0

GenotypeQuality
all individuals: 251
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GenotypeQuality
all individuals: 265
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GenotypeQuality
all individuals: 4394
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3906
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variant carriers: 2

GenotypeQuality
all individuals: 3335
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variant carriers: 1

GenotypeQuality
all individuals: 10222
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2658
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 47
allele frequency: 4.071379071379071e-3
allele num: 11544
num of homozygotes: 0

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

Other
type: Population
allele count: 5
allele frequency: 5.827505827505828e-3
allele num: 858
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.426533523537803e-4
allele num: 14020
num of homozygotes: 0

African
type: Population
allele count: 1237
allele frequency: 1.197714949651433e-1
allele num: 10328
num of homozygotes: 77

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.451355906235637e-4
allele num: 65270
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.339e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.467e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.72e0

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.97e-2

DP
type: SiteQuality
SIO_000300: 2.319287e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.95e-1

GenotypeQuality
all individuals: 2336
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3353
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variant carriers: 0

GenotypeQuality
all individuals: 65
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GenotypeQuality
all individuals: 77
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GenotypeQuality
all individuals: 64
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variant carriers: 0

GenotypeQuality
all individuals: 30
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GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 2470
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GenotypeQuality
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GenotypeQuality
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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: 197
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25809
bin: 9.75e1
variant carriers: 5

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.596714881098308e-5
allele num: 65264
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13988
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.68429207824908e-5
allele num: 10326
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.105e1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.81e-1

DP
type: SiteQuality
SIO_000300: 2.229041e6

FS
type: SiteQuality
SIO_000300: 1.736e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

GenotypeQuality
all individuals: 193
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variant carriers: 0

GenotypeQuality
all individuals: 3931
bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 3955
bin: 7.75e1
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GenotypeQuality
all individuals: 113
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.42673705236125e-4
allele num: 14018
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532191340054546e-5
allele num: 65266
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.066e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.582e0

FS
type: SiteQuality
SIO_000300: 2.54e0

DP
type: SiteQuality
SIO_000300: 2.228667e6

MQRankSum
type: SiteQuality
SIO_000300: 6.56e-1

GenotypeQuality
all individuals: 53
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 63
bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 60

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 174
bin: 3.75e1
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GenotypeQuality
all individuals: 2334
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 350
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GenotypeQuality
all individuals: 2660
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 68
allele frequency: 4.945454545454545e-3
allele num: 13750
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65176
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.738e0

DP
type: SiteQuality
SIO_000300: 2.224518e6

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 5.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

QD
type: SiteQuality
SIO_000300: 1.174e1

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3943
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variant carriers: 0

GenotypeQuality
all individuals: 3924
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variant carriers: 0

GenotypeQuality
all individuals: 393
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GenotypeQuality
all individuals: 25833
bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.75e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65116
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.350779182593354e-5
allele num: 13604
num of homozygotes: 0

VQSLOD
type: SiteQuality
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DP
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MQ
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SIO_000300: 6.06e1

ClippingRankSum
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SIO_000300: -1.256e0

FS
type: SiteQuality
SIO_000300: 5.528e0

BaseQRankSum
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SIO_000300: -5.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537609939110646e-5
allele num: 65036
num of homozygotes: 0

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

FS
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SIO_000300: 5.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ClippingRankSum
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VQSLOD
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QD
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SIO_000300: 1.228e1

MQRankSum
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SIO_000300: 1.29e0

BaseQRankSum
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SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 2.213027e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65036
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.500750075007501e-5
allele num: 13332
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10304
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QD
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SIO_000300: 1.228e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

FS
type: SiteQuality
SIO_000300: 5.37e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

ClippingRankSum
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SIO_000300: 4.19e-1

VQSLOD
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MQRankSum
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SIO_000300: 1.29e0

BaseQRankSum
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SIO_000300: 1.04e0

InbreedingCoeff
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SIO_000300: 2.5e-3

DP
type: SiteQuality
SIO_000300: 2.213027e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 1
allele frequency: 9.706853038245001e-5
allele num: 10302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.522190461862494e-5
allele num: 13294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537468097536976e-5
allele num: 65042
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.95e0

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.165e0

QD
type: SiteQuality
SIO_000300: 1.315e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQ
type: SiteQuality
SIO_000300: 5.947e1

DP
type: SiteQuality
SIO_000300: 2.212292e6

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65040
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.61e-1

DP
type: SiteQuality
SIO_000300: 2.211896e6

InbreedingCoeff
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SIO_000300: 4.8e-3

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.949e1

BaseQRankSum
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SIO_000300: -2.908e0

VQSLOD
type: SiteQuality
SIO_000300: 7.81e-1

QD
type: SiteQuality
SIO_000300: 1.067e1

FS
type: SiteQuality
SIO_000300: 3.547e0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65006
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13238
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.7e-2

FS
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.922e1

QD
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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SIO_000300: -5.608e-1

BaseQRankSum
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SIO_000300: -3.076e0

DP
type: SiteQuality
SIO_000300: 2.209774e6

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.522997258604935e-4
allele num: 13132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64960
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 1.351e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.99e-1

ReadPosRankSum
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DP
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SIO_000300: 2.208847e6

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540499738115044e-5
allele num: 64914
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.914e0

QD
type: SiteQuality
SIO_000300: 1.202e1

VQSLOD
type: SiteQuality
SIO_000300: -9.189000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.385e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: 2.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

DP
type: SiteQuality
SIO_000300: 2.205873e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 18
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GenotypeQuality
all individuals: 4279
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.72951936174353e-5
allele num: 10278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12634
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.07e-1

DP
type: SiteQuality
SIO_000300: 2.198449e6

FS
type: SiteQuality
SIO_000300: 6.695e0

QD
type: SiteQuality
SIO_000300: 1.631e1

MQ
type: SiteQuality
SIO_000300: 5.934e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.44e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.817e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.49e-1

GenotypeQuality
all individuals: 541
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variant carriers: 0

GenotypeQuality
all individuals: 230
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 7.963051441312311e-5
allele num: 12558
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64712
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.196963e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

QD
type: SiteQuality
SIO_000300: 1.086e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.031e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
all individuals: 544
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GenotypeQuality
all individuals: 301
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.75609756097561e-5
allele num: 10250
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.417508417508418e-5
allele num: 11880
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551301541993733e-5
allele num: 64462
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.02e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.191e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 1.455e1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.190732e6

VQSLOD
type: SiteQuality
SIO_000300: 5.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

GenotypeQuality
all individuals: 3913
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 94

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4205
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GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

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

South Asian
type: Population
allele count: 77
allele frequency: 6.54873277768328e-3
allele num: 11758
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.177497122593088e-4
allele num: 64294
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.077375122428991e-3
allele num: 10210
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.60778859527121e-4
allele num: 11504
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.111e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.29e0

MQRankSum
type: SiteQuality
SIO_000300: 5.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

DP
type: SiteQuality
SIO_000300: 2.19597e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 25909
bin: 9.75e1
variant carriers: 57

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 1

South Asian
type: Population
allele count: 11
allele frequency: 9.355332539547543e-4
allele num: 11758
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.60778859527121e-4
allele num: 11504
num of homozygotes: 0

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

African
type: Population
allele count: 44
allele frequency: 4.309500489715965e-3
allele num: 10210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64294
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.19597e6

MQRankSum
type: SiteQuality
SIO_000300: 5.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.29e0

QD
type: SiteQuality
SIO_000300: 1.111e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

GenotypeQuality
all individuals: 87
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.221420350265965e-5
allele num: 64294
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11758
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

QD
type: SiteQuality
SIO_000300: 1.111e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-2

DP
type: SiteQuality
SIO_000300: 2.19597e6

GenotypeQuality
all individuals: 910
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3922
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GenotypeQuality
all individuals: 3346
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551205286507616e-5
allele num: 64466
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.253e1

DP
type: SiteQuality
SIO_000300: 2.196073e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.548e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2862
bin: 2.25e1
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GenotypeQuality
all individuals: 3346
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GenotypeQuality
all individuals: 84
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GenotypeQuality
all individuals: 443
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GenotypeQuality
all individuals: 550
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GenotypeQuality
all individuals: 910
bin: 7.5e0
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GenotypeQuality
all individuals: 3922
bin: 7.75e1
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GenotypeQuality
all individuals: 278
bin: 3.75e1
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GenotypeQuality
all individuals: 3911
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
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GenotypeQuality
all individuals: 558
bin: 3.25e1
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GenotypeQuality
all individuals: 392
bin: 1.75e1
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GenotypeQuality
all individuals: 25909
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 4239
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.696352841391009e-4
allele num: 11790
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551205286507616e-5
allele num: 64466
num of homozygotes: 0

East Asian
type: Population
allele count: 19
allele frequency: 2.205711632226608e-3
allele num: 8614
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: 3
allele frequency: 2.606429192006951e-4
allele num: 11510
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.548e0

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

FS
type: SiteQuality
SIO_000300: 7.88e-1

QD
type: SiteQuality
SIO_000300: 1.253e1

DP
type: SiteQuality
SIO_000300: 2.196073e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 25909
bin: 9.75e1
variant carriers: 4

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.204821146030466e-5
allele num: 64466
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

QD
type: SiteQuality
SIO_000300: 1.253e1

FS
type: SiteQuality
SIO_000300: 7.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

DP
type: SiteQuality
SIO_000300: 2.196073e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.548e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.553904963172452e-5
allele num: 64354
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.777082518576456e-5
allele num: 10228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.03e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.496e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

FS
type: SiteQuality
SIO_000300: 4.859e0

DP
type: SiteQuality
SIO_000300: 2.192399e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.37e-1

QD
type: SiteQuality
SIO_000300: 1.612e1

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.737619461337967e-4
allele num: 11510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64354
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.334e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

QD
type: SiteQuality
SIO_000300: 1.612e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 4.859e0

BaseQRankSum
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SIO_000300: -1.496e0

DP
type: SiteQuality
SIO_000300: 2.192399e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.784735812133073e-5
allele num: 10220
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554146462762651e-5
allele num: 64344
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

FS
type: SiteQuality
SIO_000300: 2.716e0

MQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

QD
type: SiteQuality
SIO_000300: 1.601e1

DP
type: SiteQuality
SIO_000300: 2.192389e6

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.52e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.110226424483703e-5
allele num: 64304
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.067e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 2.192329e6

VQSLOD
type: SiteQuality
SIO_000300: 6.42e-1

QD
type: SiteQuality
SIO_000300: 1.275e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.234e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 25

GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.207729468599034e-3
allele num: 828
num of homozygotes: 0

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

South Asian
type: Population
allele count: 22
allele frequency: 1.929824561403509e-3
allele num: 11400
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.555355087566491e-5
allele num: 64294
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.363e1

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.555887478217575e-5
allele num: 64272
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 11496
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.315e0

ReadPosRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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MQ
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 100
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4172
num of homozygotes: 0

African
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allele frequency: 2.801120448179272e-3
allele num: 1428
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 23
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.14e1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.759999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.6e-1

DP
type: SiteQuality
SIO_000300: 2.79309e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeQuality
all individuals: 2326
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1721
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 913
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30744
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 69
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13390
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.124044180118947e-4
allele num: 4708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4722
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

VQSLOD
type: SiteQuality
SIO_000300: -1.242e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.36e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-1

QD
type: SiteQuality
SIO_000300: 1.148e1

MQ
type: SiteQuality
SIO_000300: 5.811e1

DP
type: SiteQuality
SIO_000300: 3.08538e5

BaseQRankSum
type: SiteQuality
SIO_000300: 6.75e-1

GenotypeQuality
all individuals: 1868
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2341
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29145
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1774
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 6.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.99e-2

QD
type: SiteQuality
SIO_000300: 1.057e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: -1.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.026e0

DP
type: SiteQuality
SIO_000300: 3.47599e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 21

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 8

GenotypeQuality
all individuals: 3626
bin: 6.25e1
variant carriers: 23

GenotypeQuality
all individuals: 14355
bin: 2.25e1
variant carriers: 38

GenotypeQuality
all individuals: 143
bin: 5.25e1
variant carriers: 28

GenotypeQuality
all individuals: 572
bin: 2.75e1
variant carriers: 29

GenotypeQuality
all individuals: 79
bin: 8.25e1
variant carriers: 19

GenotypeQuality
all individuals: 115
bin: 7.75e1
variant carriers: 11

GenotypeQuality
all individuals: 2197
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 536
bin: 3.25e1
variant carriers: 16

GenotypeQuality
all individuals: 123
bin: 7.25e1
variant carriers: 13

GenotypeQuality
all individuals: 237
bin: 3.75e1
variant carriers: 4

GenotypeQuality
all individuals: 429
bin: 6.75e1
variant carriers: 26

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 20

GenotypeQuality
all individuals: 28130
bin: 7.5e0
variant carriers: 28

Latino
type: Population
allele count: 12
allele frequency: 3.571428571428571e-2
allele num: 336
num of homozygotes: 0

African
type: Population
allele count: 375
allele frequency: 1.93698347107438e-1
allele num: 1936
num of homozygotes: 18

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.667222407469156e-4
allele num: 5998
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 7.352941176470588e-3
allele num: 136
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.082641645615301e-3
allele num: 5542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.92e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.43e1

DP
type: SiteQuality
SIO_000300: 3.58922e5

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.81e0

GenotypeQuality
all individuals: 101
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2410
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3936
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1690
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28415
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15296
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.763668430335097e-4
allele num: 5670
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6156
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.121e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.64308e5

FS
type: SiteQuality
SIO_000300: 8.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.87e-2

GenotypeQuality
all individuals: 112
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2189
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1503
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27952
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 473
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16484
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4422
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1948
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5946
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.69e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.78158e5

QD
type: SiteQuality
SIO_000300: 1.505e1

GenotypeQuality
all individuals: 70
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4688
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2406
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27830
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1300
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1319
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16669
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2004
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6724
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.503e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.86124e5

VQSLOD
type: SiteQuality
SIO_000300: 4.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.61e-2

MQ
type: SiteQuality
SIO_000300: 6.351e1

GenotypeQuality
all individuals: 5213
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1104
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27893
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1167
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2122
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 9.75e1
variant carriers: 0

European (Non-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: 150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6946
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2156
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.231e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 3.97128e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.55e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.673e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.01e0

GenotypeQuality
all individuals: 369
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 159
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2184
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1319
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5273
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 118
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 4.283266704740148e-4
allele num: 7004
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2182
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6672
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 70
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.870000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.67e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.23e-1

QD
type: SiteQuality
SIO_000300: 6.68e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

DP
type: SiteQuality
SIO_000300: 3.98387e5

BaseQRankSum
type: SiteQuality
SIO_000300: -4.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.587e0

GenotypeQuality
all individuals: 165
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5477
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 16958
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28127
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 646
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 115
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 9.25e1
variant carriers: 1

African
type: Population
allele count: 11
allele frequency: 4.893238434163701e-3
allele num: 2248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6792
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7020
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 74
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.64e-2

QD
type: SiteQuality
SIO_000300: 1.276e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.85e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

DP
type: SiteQuality
SIO_000300: 4.02056e5

GenotypeQuality
all individuals: 15052
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5652
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 176
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1062
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1383
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 9.75e1
variant carriers: 34

GenotypeQuality
all individuals: 660
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 178
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 44
bin: 8.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

South Asian
type: Population
allele count: 31
allele frequency: 4.373589164785553e-3
allele num: 7088
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 2.988898377455166e-3
allele num: 2342
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.831257078142696e-4
allele num: 7064
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.86e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.38e0

DP
type: SiteQuality
SIO_000300: 3.99527e5

FS
type: SiteQuality
SIO_000300: 5.23e-1

QD
type: SiteQuality
SIO_000300: 1.231e1

GenotypeQuality
all individuals: 275
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1822
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14043
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 85
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 35
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 7.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 131
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.272287097692965e-4
allele num: 7022
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7066
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.501501501501501e-3
allele num: 666
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.269854824935952e-4
allele num: 2342
num of homozygotes: 0

Latino
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: 62
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.257e1

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.65e-2

FS
type: SiteQuality
SIO_000300: 2.572e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.05e-1

DP
type: SiteQuality
SIO_000300: 3.96624e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.26e-1

GenotypeQuality
all individuals: 275
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5532
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29196
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1077
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 14043
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7066
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7022
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.65e-2

QD
type: SiteQuality
SIO_000300: 1.257e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

FS
type: SiteQuality
SIO_000300: 2.572e0

DP
type: SiteQuality
SIO_000300: 3.96624e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.26e-1

GenotypeQuality
all individuals: 29426
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2097
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14464
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1071
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 326
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 309
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 175
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.812939521800281e-4
allele num: 7110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.240882103477523e-4
allele num: 2358
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.485e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

QD
type: SiteQuality
SIO_000300: 1.057e1

MQRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.96602e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.93e-2

FS
type: SiteQuality
SIO_000300: 2.424e0

GenotypeQuality
all individuals: 1869
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1112
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 12661
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 317
bin: 2.75e1
variant carriers: 5

GenotypeQuality
all individuals: 174
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 179
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 91
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 309
bin: 9.75e1
variant carriers: 35

GenotypeQuality
all individuals: 2377
bin: 1.75e1
variant carriers: 5

GenotypeQuality
all individuals: 168
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 668
bin: 6.75e1
variant carriers: 5

GenotypeQuality
all individuals: 121
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 106
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 319
bin: 3.25e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 1.415227851684121e-4
allele num: 7066
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

African
type: Population
allele count: 21
allele frequency: 8.808724832214765e-3
allele num: 2384
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 1.548672566371681e-2
allele num: 452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.020499859590003e-4
allele num: 7122
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 5.649999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

DP
type: SiteQuality
SIO_000300: 3.91023e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.16e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.358e1

GenotypeQuality
all individuals: 5702
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1652
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1093
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30133
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 2097
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

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

South Asian
type: Population
allele count: 6
allele frequency: 8.47457627118644e-4
allele num: 7080
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

FS
type: SiteQuality
SIO_000300: 2.554e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

DP
type: SiteQuality
SIO_000300: 3.91804e5

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 5.39e0

GenotypeQuality
all individuals: 33
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1652
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30133
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1093
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5702
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7190
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7080
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.91804e5

FS
type: SiteQuality
SIO_000300: 2.554e0

VQSLOD
type: SiteQuality
SIO_000300: 7.06e-1

QD
type: SiteQuality
SIO_000300: 5.39e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

GenotypeQuality
all individuals: 1024
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1828
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1794
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30785
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12202
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5721
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.378929950358522e-4
allele num: 7252
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2414
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7040
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-2

DP
type: SiteQuality
SIO_000300: 3.87602e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.036e0

QD
type: SiteQuality
SIO_000300: 1.06e1

FS
type: SiteQuality
SIO_000300: 6.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.568e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.391e-1

GenotypeQuality
all individuals: 1016
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31062
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12158
bin: 2.25e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 176
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1660
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5785
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 289
bin: 9.75e1
variant carriers: 5

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7042
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 1.647446457990115e-3
allele num: 2428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.272727272727273e-3
allele num: 440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7306
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.86912e5

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 4.61e-1

QD
type: SiteQuality
SIO_000300: 1.406e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.370000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

GenotypeQuality
all individuals: 984
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1580
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12019
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5814
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7342
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7036
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.38e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

DP
type: SiteQuality
SIO_000300: 3.85859e5

MQ
type: SiteQuality
SIO_000300: 5.941e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

QD
type: SiteQuality
SIO_000300: 9.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1382
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31775
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
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variant carriers: 0

GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
all individuals: 280
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variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5811
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 9.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2458
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7010
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.49e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.82654e5

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.839e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

QD
type: SiteQuality
SIO_000300: 5.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.754e0

GenotypeQuality
all individuals: 1625
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5446
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9955
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6736
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.791e1

QD
type: SiteQuality
SIO_000300: 1.047e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.66087e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.12e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.856e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 174
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1065
bin: 1.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33343
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5222
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

Latino
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: 66
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7334
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.231e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.950000000000001e-2

QD
type: SiteQuality
SIO_000300: 2.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 4.996e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.5899e5

VQSLOD
type: SiteQuality
SIO_000300: 7.33e-1

GenotypeQuality
all individuals: 847
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 170
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 2.5e0
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GenotypeQuality
all individuals: 94
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5296
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 181
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.35685210312076e-4
allele num: 7370
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 3.59688e5

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.950000000000001e-2

FS
type: SiteQuality
SIO_000300: 1.875e0

QD
type: SiteQuality
SIO_000300: 1.038e1