1-213414917-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213414917
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213414917
    reference: chr 1
allele count: 1
allele frequency: 8.259138737012504e-6
allele num: 121078
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1207G>T
  hgvsp: ENSP00000439282.1:p.Glu403Ter
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2062G>T
  hgvsp: ENSP00000355926.3:p.Glu688Ter
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1462G>T
  hgvsp: ENSP00000442306.1:p.Glu488Ter
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2098G>T
  hgvsp: ENSP00000355927.3:p.Glu700Ter
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.1912G>T
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7950
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu700Ter
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

1-213414918-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213414918
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213414918
    reference: chr 1
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2099A>T
  hgvsp: ENSP00000355927.3:p.Glu700Val
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1208A>T
  hgvsp: ENSP00000439282.1:p.Glu403Val
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.1913A>T
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1463A>T
  hgvsp: ENSP00000442306.1:p.Glu488Val
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2063A>T
  hgvsp: ENSP00000355926.3:p.Glu688Val
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7951
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 41934
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genotype quality: GenotypeQuality
  all individuals: 1300
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genotype quality: GenotypeQuality
  all individuals: 2270
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genotype quality: GenotypeQuality
  all individuals: 728
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu700Val
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum

1-213414928-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213414928
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213414928
    reference: chr 1
allele count: 7
allele frequency: 5.782925499396924e-5
allele num: 121046
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1473A>G
  hgvsp: ENST00000543470.1:c.1473A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2109A>G
  hgvsp: ENST00000366960.3:c.2109A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2073A>G
  hgvsp: ENST00000366959.3:c.2073A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1218A>G
  hgvsp: ENST00000543354.1:c.1218A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.1923A>G
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13931
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 45
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg703Arg
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: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

1-213414951-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213414951
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213414951
    reference: chr 1
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1496C>G
  hgvsp: ENSP00000442306.1:p.Thr499Ser
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.1946C>G
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2132C>G
  hgvsp: ENSP00000355927.3:p.Thr711Ser
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1241C>G
  hgvsp: ENSP00000439282.1:p.Thr414Ser
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2096C>G
  hgvsp: ENSP00000355926.3:p.Thr699Ser
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13713
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41680
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr711Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

1-213414959-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213414959
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213414959
    reference: chr 1
allele count: 1
allele frequency: 8.275542461808372e-6
allele num: 120838
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1504A>G
  hgvsp: ENSP00000442306.1:p.Thr502Ala
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2140A>G
  hgvsp: ENSP00000355927.3:p.Thr714Ala
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1249A>G
  hgvsp: ENSP00000439282.1:p.Thr417Ala
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2104A>G
  hgvsp: ENSP00000355926.3:p.Thr702Ala
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.1954A>G
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7902
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41499
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3250
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr714Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

1-213414970-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213414970
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213414970
    reference: chr 1
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2115T>C
  hgvsp: ENST00000366959.3:c.2115T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.1965T>C
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1260T>C
  hgvsp: ENST00000543354.1:c.1260T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2151T>C
  hgvsp: ENST00000366960.3:c.2151T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1515T>C
  hgvsp: ENST00000543470.1:c.1515T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 102
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn717Asn
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

1-213414972-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213414972
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213414972
    reference: chr 1
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2153T>C
  hgvsp: ENSP00000355927.3:p.Ile718Thr
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.1967T>C
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1262T>C
  hgvsp: ENSP00000439282.1:p.Ile421Thr
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2117T>C
  hgvsp: ENSP00000355926.3:p.Ile706Thr
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1517T>C
  hgvsp: ENSP00000442306.1:p.Ile506Thr
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 11477
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3250
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 40837
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genotype quality: GenotypeQuality
  all individuals: 578
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genotype quality: GenotypeQuality
  all individuals: 7808
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile718Thr
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-213414988-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213414988
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213414988
    reference: chr 1
allele count: 1
allele frequency: 8.287201246395068e-6
allele num: 120668
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.1983T>A
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2133T>A
  hgvsp: ENSP00000355926.3:p.Asn711Lys
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1278T>A
  hgvsp: ENSP00000439282.1:p.Asn426Lys
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2169T>A
  hgvsp: ENSP00000355927.3:p.Asn723Lys
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1533T>A
  hgvsp: ENSP00000442306.1:p.Asn511Lys
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
  all individuals: 13688
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 310
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3248
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn723Lys
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

1-213414992-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213414992
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213414992
    reference: chr 1
allele count: 2
allele frequency: 1.657797450307521e-5
allele num: 120642
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2137C>T
  hgvsp: ENSP00000355926.3:p.Leu713Phe
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1282C>T
  hgvsp: ENSP00000439282.1:p.Leu428Phe
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2173C>T
  hgvsp: ENSP00000355927.3:p.Leu725Phe
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1537C>T
  hgvsp: ENSP00000442306.1:p.Leu513Phe
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.1987C>T
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40120
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu725Phe
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-213414996-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213414996
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213414996
    reference: chr 1
allele count: 1
allele frequency: 8.289949265510494e-6
allele num: 120628
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1541T>A
  hgvsp: ENSP00000442306.1:p.Leu514Ter
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1286T>A
  hgvsp: ENSP00000439282.1:p.Leu429Ter
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.1991T>A
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2177T>A
  hgvsp: ENSP00000355927.3:p.Leu726Ter
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2141T>A
  hgvsp: ENSP00000355926.3:p.Leu714Ter
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11197
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7580
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40127
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu726Ter
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

1-213415001-GCC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415001
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213414999
    reference: chr 1
allele count: 1
allele frequency: 8.286926544683108e-6
allele num: 120672
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2185_2186delCC
  hgvsp: ENSP00000355927.3:p.Pro729Ter
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1294_1295delCC
  hgvsp: ENSP00000439282.1:p.Pro432Ter
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.1999_2000delCC
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2149_2150delCC
  hgvsp: ENSP00000355926.3:p.Pro717Ter
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1549_1550delCC
  hgvsp: ENSP00000442306.1:p.Pro517Ter
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 319
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 723
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3245
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40780
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro729Ter
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: GCC
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

1-213415002-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415002
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415002
    reference: chr 1
allele count: 1
allele frequency: 8.288300235387727e-6
allele num: 120652
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2147C>T
  hgvsp: ENSP00000355926.3:p.Ala716Val
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.1997C>T
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1292C>T
  hgvsp: ENSP00000439282.1:p.Ala431Val
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1547C>T
  hgvsp: ENSP00000442306.1:p.Ala516Val
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2183C>T
  hgvsp: ENSP00000355927.3:p.Ala728Val
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40842
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7583
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2207
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala728Val
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

1-213415003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415003
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415003
    reference: chr 1
allele count: 1
allele frequency: 8.291048983517394e-6
allele num: 120612
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.1998C>T
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1293C>T
  hgvsp: ENST00000543354.1:c.1293C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2148C>T
  hgvsp: ENST00000366959.3:c.2148C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2184C>T
  hgvsp: ENST00000366960.3:c.2184C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1548C>T
  hgvsp: ENST00000543470.1:c.1548C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 27836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40901
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3241
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala728Ala
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

1-213415024-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415024
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415024
    reference: chr 1
allele count: 1
allele frequency: 8.276775368316504e-6
allele num: 120820
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2205G>T
  hgvsp: ENSP00000355927.3:p.Arg735Ser
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1314G>T
  hgvsp: ENSP00000439282.1:p.Arg438Ser
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2169G>T
  hgvsp: ENSP00000355926.3:p.Arg723Ser
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1569G>T
  hgvsp: ENSP00000442306.1:p.Arg523Ser
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2019G>T
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7562
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg735Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-213415029-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415029
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415029
    reference: chr 1
allele count: 1
allele frequency: 8.274720728175424e-6
allele num: 120850
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2174G>T
  hgvsp: ENSP00000355926.3:p.Ser725Ile
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1319G>T
  hgvsp: ENSP00000439282.1:p.Ser440Ile
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2210G>T
  hgvsp: ENSP00000355927.3:p.Ser737Ile
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2024G>T
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1574G>T
  hgvsp: ENSP00000442306.1:p.Ser525Ile
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7558
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42039
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser737Ile
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

1-213415050-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415050
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415050
    reference: chr 1
allele count: 1
allele frequency: 8.264736024331383e-6
allele num: 120996
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2045A>G
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1340A>G
  hgvsp: ENSP00000439282.1:p.His447Arg
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2231A>G
  hgvsp: ENSP00000355927.3:p.His744Arg
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2195A>G
  hgvsp: ENSP00000355926.3:p.His732Arg
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1595A>G
  hgvsp: ENSP00000442306.1:p.His532Arg
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42533
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His744Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

1-213415050-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415050
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415050
    reference: chr 1
allele count: 1
allele frequency: 8.264736024331383e-6
allele num: 120996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1595A>T
  hgvsp: ENSP00000442306.1:p.His532Leu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2195A>T
  hgvsp: ENSP00000355926.3:p.His732Leu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2231A>T
  hgvsp: ENSP00000355927.3:p.His744Leu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1340A>T
  hgvsp: ENSP00000439282.1:p.His447Leu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2045A>T
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14653
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
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genotype quality: GenotypeQuality
  all individuals: 37
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genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 720
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genotype quality: GenotypeQuality
  all individuals: 24
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genotype quality: GenotypeQuality
  all individuals: 563
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 181
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genotype quality: GenotypeQuality
  all individuals: 3237
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42533
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His744Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

1-213415059-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415059
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415059
    reference: chr 1
allele count: 1
allele frequency: 8.261322141995606e-6
allele num: 121046
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2204A>G
  hgvsp: ENSP00000355926.3:p.Lys735Arg
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2054A>G
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2240A>G
  hgvsp: ENSP00000355927.3:p.Lys747Arg
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1349A>G
  hgvsp: ENSP00000439282.1:p.Lys450Arg
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1604A>G
  hgvsp: ENSP00000442306.1:p.Lys535Arg
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7548
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 42646
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
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genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 23
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genotype quality: GenotypeQuality
  all individuals: 9
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys747Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

1-213415062-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415062
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415062
    reference: chr 1
allele count: 2
allele frequency: 1.652237129072764e-5
allele num: 121048
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2243G>A
  hgvsp: ENSP00000355927.3:p.Gly748Asp
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2057G>A
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2207G>A
  hgvsp: ENSP00000355926.3:p.Gly736Asp
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1607G>A
  hgvsp: ENSP00000442306.1:p.Gly536Asp
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1352G>A
  hgvsp: ENSP00000439282.1:p.Gly451Asp
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28429
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
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genotype quality: GenotypeQuality
  all individuals: 42660
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 156
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 721
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly748Asp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP

1-213415065-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415065
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415065
    reference: chr 1
allele count: 1
allele frequency: 8.259820927082301e-6
allele num: 121068
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2210T>C
  hgvsp: ENSP00000355926.3:p.Ile737Thr
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2060T>C
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2246T>C
  hgvsp: ENSP00000355927.3:p.Ile749Thr
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1610T>C
  hgvsp: ENSP00000442306.1:p.Ile537Thr
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1355T>C
  hgvsp: ENSP00000439282.1:p.Ile452Thr
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3238
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42699
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7544
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile749Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

1-213415068-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415068
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415068
    reference: chr 1
allele count: 2
allele frequency: 1.651827747402501e-5
allele num: 121078
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2063A>G
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1358A>G
  hgvsp: ENSP00000439282.1:p.Glu453Gly
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2249A>G
  hgvsp: ENSP00000355927.3:p.Glu750Gly
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2213A>G
  hgvsp: ENSP00000355926.3:p.Glu738Gly
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1613A>G
  hgvsp: ENSP00000442306.1:p.Glu538Gly
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7553
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3239
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Glu750Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

1-213415084-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415084
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415084
    reference: chr 1
allele count: 2
allele frequency: 1.650927821435647e-5
allele num: 121144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2229C>T
  hgvsp: ENST00000366959.3:c.2229C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2079C>T
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1374C>T
  hgvsp: ENST00000543354.1:c.1374C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1629C>T
  hgvsp: ENST00000543470.1:c.1629C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2265C>T
  hgvsp: ENST00000366960.3:c.2265C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42768
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7563
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 7
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro755Pro
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

1-213415101-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415101
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415101
    reference: chr 1
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1391A>G
  hgvsp: ENSP00000439282.1:p.Tyr464Cys
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2282A>G
  hgvsp: ENSP00000355927.3:p.Tyr761Cys
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2096A>G
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2246A>G
  hgvsp: ENSP00000355926.3:p.Tyr749Cys
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1646A>G
  hgvsp: ENSP00000442306.1:p.Tyr549Cys
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr761Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS

1-213415104-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415104
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415104
    reference: chr 1
allele count: 2
allele frequency: 1.650301179965344e-5
allele num: 121190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2099G>A
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1649G>A
  hgvsp: ENSP00000442306.1:p.Ser550Asn
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1394G>A
  hgvsp: ENSP00000439282.1:p.Ser465Asn
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2285G>A
  hgvsp: ENSP00000355927.3:p.Ser762Asn
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2249G>A
  hgvsp: ENSP00000355926.3:p.Ser750Asn
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11326
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser762Asn
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-213415104-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415104
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415104
    reference: chr 1
allele count: 2
allele frequency: 1.650301179965344e-5
allele num: 121190
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2099G>C
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2249G>C
  hgvsp: ENSP00000355926.3:p.Ser750Thr
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1394G>C
  hgvsp: ENSP00000439282.1:p.Ser465Thr
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1649G>C
  hgvsp: ENSP00000442306.1:p.Ser550Thr
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2285G>C
  hgvsp: ENSP00000355927.3:p.Ser762Thr
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser762Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

1-213415122-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415122
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415122
    reference: chr 1
allele count: 27
allele frequency: 2.226987792807654e-4
allele num: 121240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1667A>G
  hgvsp: ENSP00000442306.1:p.Tyr556Cys
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2267A>G
  hgvsp: ENSP00000355926.3:p.Tyr756Cys
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2303A>G
  hgvsp: ENSP00000355927.3:p.Tyr768Cys
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1412A>G
  hgvsp: ENSP00000439282.1:p.Tyr471Cys
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2117A>G
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3257
  bin: 9.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr768Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

1-213415133-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415133
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415133
    reference: chr 1
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1678G>A
  hgvsp: ENSP00000442306.1:p.Asp560Asn
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1423G>A
  hgvsp: ENSP00000439282.1:p.Asp475Asn
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2128G>A
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2314G>A
  hgvsp: ENSP00000355927.3:p.Asp772Asn
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2278G>A
  hgvsp: ENSP00000355926.3:p.Asp760Asn
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3239
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7570
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp772Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

1-213415138-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415138
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415138
    reference: chr 1
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1683C>T
  hgvsp: ENST00000543470.1:c.1683C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1428C>T
  hgvsp: ENST00000543354.1:c.1428C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2133C>T
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2319C>T
  hgvsp: ENST00000366960.3:c.2319C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2283C>T
  hgvsp: ENST00000366959.3:c.2283C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3238
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7573
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro773Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

1-213415148-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415148
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415148
    reference: chr 1
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1438T>C
  hgvsp: ENSP00000439282.1:p.Phe480Leu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2329T>C
  hgvsp: ENSP00000355927.3:p.Phe777Leu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2143T>C
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2293T>C
  hgvsp: ENSP00000355926.3:p.Phe765Leu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1693T>C
  hgvsp: ENSP00000442306.1:p.Phe565Leu
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7571
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42928
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe777Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-213415149-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415149
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415149
    reference: chr 1
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2330T>C
  hgvsp: ENSP00000355927.3:p.Phe777Ser
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2144T>C
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1694T>C
  hgvsp: ENSP00000442306.1:p.Phe565Ser
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1439T>C
  hgvsp: ENSP00000439282.1:p.Phe480Ser
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2294T>C
  hgvsp: ENSP00000355926.3:p.Phe765Ser
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7574
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42920
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe777Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

1-213415152-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415152
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415152
    reference: chr 1
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1442T>C
  hgvsp: ENSP00000439282.1:p.Val481Ala
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1697T>C
  hgvsp: ENSP00000442306.1:p.Val566Ala
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2333T>C
  hgvsp: ENSP00000355927.3:p.Val778Ala
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2147T>C
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2297T>C
  hgvsp: ENSP00000355926.3:p.Val766Ala
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val778Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

1-213415157-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415157
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415157
    reference: chr 1
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2302G>A
  hgvsp: ENSP00000355926.3:p.Ala768Thr
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2338G>A
  hgvsp: ENSP00000355927.3:p.Ala780Thr
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1447G>A
  hgvsp: ENSP00000439282.1:p.Ala483Thr
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1702G>A
  hgvsp: ENSP00000442306.1:p.Ala568Thr
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2152G>A
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3235
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7570
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala780Thr
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-213415158-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415158
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415158
    reference: chr 1
allele count: 2
allele frequency: 1.648967746190884e-5
allele num: 121288
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2339C>G
  hgvsp: ENSP00000355927.3:p.Ala780Gly
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1448C>G
  hgvsp: ENSP00000439282.1:p.Ala483Gly
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1703C>G
  hgvsp: ENSP00000442306.1:p.Ala568Gly
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2153C>G
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2303C>G
  hgvsp: ENSP00000355926.3:p.Ala768Gly
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 18
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7568
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala780Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

1-213415160-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415160
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415160
    reference: chr 1
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2155G>A
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2305G>A
  hgvsp: ENSP00000355926.3:p.Val769Ile
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1450G>A
  hgvsp: ENSP00000439282.1:p.Val484Ile
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2341G>A
  hgvsp: ENSP00000355927.3:p.Val781Ile
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1705G>A
  hgvsp: ENSP00000442306.1:p.Val569Ile
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2073
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genotype quality: GenotypeQuality
  all individuals: 2158
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val781Ile
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

1-213415167-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415167
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415167
    reference: chr 1
allele count: 4
allele frequency: 3.297989875171083e-5
allele num: 121286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1712A>G
  hgvsp: ENSP00000442306.1:p.His571Arg
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1457A>G
  hgvsp: ENSP00000439282.1:p.His486Arg
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2348A>G
  hgvsp: ENSP00000355927.3:p.His783Arg
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2162A>G
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2312A>G
  hgvsp: ENSP00000355926.3:p.His771Arg
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His783Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

1-213415169-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415169
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415169
    reference: chr 1
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2314A>G
  hgvsp: ENSP00000355926.3:p.Ser772Gly
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1714A>G
  hgvsp: ENSP00000442306.1:p.Ser572Gly
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2350A>G
  hgvsp: ENSP00000355927.3:p.Ser784Gly
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1459A>G
  hgvsp: ENSP00000439282.1:p.Ser487Gly
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2164A>G
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7566
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3234
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser784Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-213415177-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415177
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415177
    reference: chr 1
allele count: 52
allele frequency: 4.287033372905949e-4
allele num: 121296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1467A>C
  hgvsp: ENST00000543354.1:c.1467A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2172A>C
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2322A>C
  hgvsp: ENST00000366959.3:c.2322A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2358A>C
  hgvsp: ENST00000366960.3:c.2358A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1722A>C
  hgvsp: ENST00000543470.1:c.1722A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14623
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11337
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 42936
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7571
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3275
  bin: 9.75e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser786Ser
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

1-213415181-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415181
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415181
    reference: chr 1
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2176G>C
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2326G>C
  hgvsp: ENSP00000355926.3:p.Asp776His
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1726G>C
  hgvsp: ENSP00000442306.1:p.Asp576His
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1471G>C
  hgvsp: ENSP00000439282.1:p.Asp491His
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2362G>C
  hgvsp: ENSP00000355927.3:p.Asp788His
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7580
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42962
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp788His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

1-213415181-GAT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415181
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415179
    reference: chr 1
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2179_2180delAT
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2365_2366delAT
  hgvsp: ENSP00000355927.3:p.Met789ValfsTer9
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1474_1475delAT
  hgvsp: ENSP00000439282.1:p.Met492ValfsTer9
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2329_2330delAT
  hgvsp: ENSP00000355926.3:p.Met777ValfsTer9
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1729_1730delAT
  hgvsp: ENSP00000442306.1:p.Met577ValfsTer9
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42962
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met789ValfsTer9
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: GAT
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

1-213415185-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415185
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415185
    reference: chr 1
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2330T>C
  hgvsp: ENSP00000355926.3:p.Met777Thr
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1475T>C
  hgvsp: ENSP00000439282.1:p.Met492Thr
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2366T>C
  hgvsp: ENSP00000355927.3:p.Met789Thr
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1730T>C
  hgvsp: ENSP00000442306.1:p.Met577Thr
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2180T>C
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42968
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7578
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met789Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-213415203-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415203
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415203
    reference: chr 1
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2384C>T
  hgvsp: ENSP00000355927.3:p.Ser795Leu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2348C>T
  hgvsp: ENSP00000355926.3:p.Ser783Leu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1493C>T
  hgvsp: ENSP00000439282.1:p.Ser498Leu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2198C>T
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1748C>T
  hgvsp: ENSP00000442306.1:p.Ser583Leu
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7572
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser795Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-213415211-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415211
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415211
    reference: chr 1
allele count: 6
allele frequency: 4.949106686243133e-5
allele num: 121234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1756A>C
  hgvsp: ENSP00000442306.1:p.Lys586Gln
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2392A>C
  hgvsp: ENSP00000355927.3:p.Lys798Gln
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2356A>C
  hgvsp: ENSP00000355926.3:p.Lys786Gln
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2206A>C
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1501A>C
  hgvsp: ENSP00000439282.1:p.Lys501Gln
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42892
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys798Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

1-213415211-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415211
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415211
    reference: chr 1
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2206A>G
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1501A>G
  hgvsp: ENSP00000439282.1:p.Lys501Glu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1756A>G
  hgvsp: ENSP00000442306.1:p.Lys586Glu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2392A>G
  hgvsp: ENSP00000355927.3:p.Lys798Glu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2356A>G
  hgvsp: ENSP00000355926.3:p.Lys786Glu
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42892
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys798Glu
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

1-213415214-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415214
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415214
    reference: chr 1
allele count: 2
allele frequency: 1.649974425396406e-5
allele num: 121214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1504T>A
  hgvsp: ENSP00000439282.1:p.Phe502Ile
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2209T>A
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2359T>A
  hgvsp: ENSP00000355926.3:p.Phe787Ile
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2395T>A
  hgvsp: ENSP00000355927.3:p.Phe799Ile
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1759T>A
  hgvsp: ENSP00000442306.1:p.Phe587Ile
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe799Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

1-213415231-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415231
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415231
    reference: chr 1
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2226G>C
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1776G>C
  hgvsp: ENST00000543470.1:c.1776G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2412G>C
  hgvsp: ENST00000366960.3:c.2412G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2376G>C
  hgvsp: ENST00000366959.3:c.2376G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1521G>C
  hgvsp: ENST00000543354.1:c.1521G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val804Val
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: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

1-213415237-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415237
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415237
    reference: chr 1
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1782G>A
  hgvsp: ENST00000543470.1:c.1782G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2232G>A
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2382G>A
  hgvsp: ENST00000366959.3:c.2382G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2418G>A
  hgvsp: ENST00000366960.3:c.2418G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1527G>A
  hgvsp: ENST00000543354.1:c.1527G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42830
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu806Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS

1-213415248-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415248
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415248
    reference: chr 1
allele count: 1
allele frequency: 8.255865792645674e-6
allele num: 121126
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2429C>G
  hgvsp: ENSP00000355927.3:p.Thr810Ser
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1793C>G
  hgvsp: ENSP00000442306.1:p.Thr598Ser
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2393C>G
  hgvsp: ENSP00000355926.3:p.Thr798Ser
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1538C>G
  hgvsp: ENSP00000439282.1:p.Thr513Ser
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2243C>G
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3222
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42741
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr810Ser
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/1-213415252-AAAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415252
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415249
    reference: chr 1
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1802_1804delACA
  hgvsp: ENSP00000442306.1:p.Asn601del
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1547_1549delACA
  hgvsp: ENSP00000439282.1:p.Asn516del
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2438_2440delACA
  hgvsp: ENSP00000355927.3:p.Asn813del
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2402_2404delACA
  hgvsp: ENSP00000355926.3:p.Asn801del
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2252_2254delACA
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42726
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7564
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn813del
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: AAAC
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

1-213415273-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415273
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415273
    reference: chr 1
allele count: 1
allele frequency: 8.259957378619926e-6
allele num: 121066
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1818A>G
  hgvsp: ENST00000543470.1:c.1818A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2268A>G
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2418A>G
  hgvsp: ENST00000366959.3:c.2418A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1563A>G
  hgvsp: ENST00000543354.1:c.1563A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2454A>G
  hgvsp: ENST00000366960.3:c.2454A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7555
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu818Leu
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

1-213415274-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415274
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415274
    reference: chr 1
allele count: 1
allele frequency: 8.259548037531387e-6
allele num: 121072
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1819T>C
  hgvsp: ENSP00000442306.1:p.Phe607Leu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2269T>C
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1564T>C
  hgvsp: ENSP00000439282.1:p.Phe522Leu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2455T>C
  hgvsp: ENSP00000355927.3:p.Phe819Leu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2419T>C
  hgvsp: ENSP00000355926.3:p.Phe807Leu
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe819Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

1-213415277-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415277
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415277
    reference: chr 1
allele count: 2
allele frequency: 1.652100645971353e-5
allele num: 121058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2272C>T
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2458C>T
  hgvsp: ENSP00000355927.3:p.Arg820Cys
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1822C>T
  hgvsp: ENSP00000442306.1:p.Arg608Cys
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1567C>T
  hgvsp: ENSP00000439282.1:p.Arg523Cys
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2422C>T
  hgvsp: ENSP00000355926.3:p.Arg808Cys
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg820Cys
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

1-213415278-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415278
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415278
    reference: chr 1
allele count: 7
allele frequency: 5.782161206654441e-5
allele num: 121062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2273G>A
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1568G>A
  hgvsp: ENSP00000439282.1:p.Arg523His
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2423G>A
  hgvsp: ENSP00000355926.3:p.Arg808His
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1823G>A
  hgvsp: ENSP00000442306.1:p.Arg608His
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2459G>A
  hgvsp: ENSP00000355927.3:p.Arg820His
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7547
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3224
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg820His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

1-213415280-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415280
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415280
    reference: chr 1
allele count: 1
allele frequency: 8.259957378619926e-6
allele num: 121066
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2461A>G
  hgvsp: ENSP00000355927.3:p.Ile821Val
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2275A>G
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2425A>G
  hgvsp: ENSP00000355926.3:p.Ile809Val
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1570A>G
  hgvsp: ENSP00000439282.1:p.Ile524Val
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1825A>G
  hgvsp: ENSP00000442306.1:p.Ile609Val
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42617
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile821Val
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/1-213415289-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415289
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415289
    reference: chr 1
allele count: 8
allele frequency: 6.610586854848039e-5
allele num: 121018
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2284C>A
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2470C>A
  hgvsp: ENSP00000355927.3:p.Pro824Thr
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2434C>A
  hgvsp: ENSP00000355926.3:p.Pro812Thr
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1834C>A
  hgvsp: ENSP00000442306.1:p.Pro612Thr
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1579C>A
  hgvsp: ENSP00000439282.1:p.Pro527Thr
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42556
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 9.75e1
  variant carriers: 8
hgvs: p.Pro824Thr
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

1-213415289-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415289
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415289
    reference: chr 1
allele count: 14
allele frequency: 1.156852699598407e-4
allele num: 121018
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1834C>T
  hgvsp: ENSP00000442306.1:p.Pro612Ser
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2434C>T
  hgvsp: ENSP00000355926.3:p.Pro812Ser
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2284C>T
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1579C>T
  hgvsp: ENSP00000439282.1:p.Pro527Ser
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2470C>T
  hgvsp: ENSP00000355927.3:p.Pro824Ser
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42556
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7543
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro824Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/1-213415291-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415291
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415291
    reference: chr 1
allele count: 26
allele frequency: 2.148547251512247e-4
allele num: 121012
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2436A>C
  hgvsp: ENST00000366959.3:c.2436A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2286A>C
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1581A>C
  hgvsp: ENST00000543354.1:c.1581A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1836A>C
  hgvsp: ENST00000543470.1:c.1836A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2472A>C
  hgvsp: ENST00000366960.3:c.2472A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42571
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3236
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro824Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

1-213415295-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415295
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415295
    reference: chr 1
allele count: 1
allele frequency: 8.264189613566494e-6
allele num: 121004
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1585T>G
  hgvsp: ENSP00000439282.1:p.Ser529Ala
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1840T>G
  hgvsp: ENSP00000442306.1:p.Ser614Ala
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2440T>G
  hgvsp: ENSP00000355926.3:p.Ser814Ala
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2476T>G
  hgvsp: ENSP00000355927.3:p.Ser826Ala
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2290T>G
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11328
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3212
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser826Ala
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

1-213415296-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415296
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415296
    reference: chr 1
allele count: 9
allele frequency: 7.437524791749306e-5
allele num: 121008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2291C>T
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1586C>T
  hgvsp: ENSP00000439282.1:p.Ser529Leu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2441C>T
  hgvsp: ENSP00000355926.3:p.Ser814Leu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2477C>T
  hgvsp: ENSP00000355927.3:p.Ser826Leu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1841C>T
  hgvsp: ENSP00000442306.1:p.Ser614Leu
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42579
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser826Leu
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

1-213415310-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415310
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415310
    reference: chr 1
allele count: 1
allele frequency: 8.263370132874991e-6
allele num: 121016
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1600T>C
  hgvsp: ENSP00000439282.1:p.Tyr534His
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2455T>C
  hgvsp: ENSP00000355926.3:p.Tyr819His
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2305T>C
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1855T>C
  hgvsp: ENSP00000442306.1:p.Tyr619His
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2491T>C
  hgvsp: ENSP00000355927.3:p.Tyr831His
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7543
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3209
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Tyr831His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-213415314-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415314
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415314
    reference: chr 1
allele count: 2
allele frequency: 1.652701340340787e-5
allele num: 121014
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1859T>C
  hgvsp: ENSP00000442306.1:p.Ile620Thr
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2459T>C
  hgvsp: ENSP00000355926.3:p.Ile820Thr
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2495T>C
  hgvsp: ENSP00000355927.3:p.Ile832Thr
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1604T>C
  hgvsp: ENSP00000439282.1:p.Ile535Thr
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2309T>C
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3210
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42656
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile832Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

1-213415316-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415316
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415316
    reference: chr 1
allele count: 1
allele frequency: 8.263506701703935e-6
allele num: 121014
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2497G>A
  hgvsp: ENSP00000355927.3:p.Ala833Thr
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1606G>A
  hgvsp: ENSP00000439282.1:p.Ala536Thr
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1861G>A
  hgvsp: ENSP00000442306.1:p.Ala621Thr
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2461G>A
  hgvsp: ENSP00000355926.3:p.Ala821Thr
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2311G>A
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2048
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3208
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7533
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala833Thr
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

1-213415327-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415327
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415327
    reference: chr 1
allele count: 1
allele frequency: 8.261458643138033e-6
allele num: 121044
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1872C>G
  hgvsp: ENSP00000442306.1:p.Asp624Glu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2472C>G
  hgvsp: ENSP00000355926.3:p.Asp824Glu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1617C>G
  hgvsp: ENSP00000439282.1:p.Asp539Glu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2322C>G
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2508C>G
  hgvsp: ENSP00000355927.3:p.Asp836Glu
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7525
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42727
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp836Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

1-213415327-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415327
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415327
    reference: chr 1
allele count: 1
allele frequency: 8.261458643138033e-6
allele num: 121044
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2322C>T
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2472C>T
  hgvsp: ENST00000366959.3:c.2472C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2508C>T
  hgvsp: ENST00000366960.3:c.2508C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1872C>T
  hgvsp: ENST00000543470.1:c.1872C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1617C>T
  hgvsp: ENST00000543354.1:c.1617C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42727
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3210
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp836Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

1-213415334-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415334
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415334
    reference: chr 1
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1624A>G
  hgvsp: ENSP00000439282.1:p.Lys542Glu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2479A>G
  hgvsp: ENSP00000355926.3:p.Lys827Glu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2329A>G
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2515A>G
  hgvsp: ENSP00000355927.3:p.Lys839Glu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1879A>G
  hgvsp: ENSP00000442306.1:p.Lys627Glu
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7538
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3208
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42771
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys839Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

1-213415338-CAGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415338
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415335
    reference: chr 1
allele count: 9
allele frequency: 7.433224863311254e-5
allele num: 121078
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2525_2527delAAG
  hgvsp: ENSP00000355927.3:p.Glu842del
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2339_2341delAAG
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1634_1636delAAG
  hgvsp: ENSP00000439282.1:p.Glu545del
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1889_1891delAAG
  hgvsp: ENSP00000442306.1:p.Glu630del
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2489_2491delAAG
  hgvsp: ENSP00000355926.3:p.Glu830del
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42808
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7532
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 9.75e1
  variant carriers: 8
hgvs: p.Glu842del
num of homozygotes: 1
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: CAGA
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

1-213415343-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415343
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415343
    reference: chr 1
allele count: 3
allele frequency: 2.477086945751796e-5
allele num: 121110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2488G>A
  hgvsp: ENSP00000355926.3:p.Glu830Lys
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2524G>A
  hgvsp: ENSP00000355927.3:p.Glu842Lys
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2338G>A
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1633G>A
  hgvsp: ENSP00000439282.1:p.Glu545Lys
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1888G>A
  hgvsp: ENSP00000442306.1:p.Glu630Lys
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2055
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu842Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

1-213415346-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415346
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415346
    reference: chr 1
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1891G>A
  hgvsp: ENSP00000442306.1:p.Val631Ile
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2527G>A
  hgvsp: ENSP00000355927.3:p.Val843Ile
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1636G>A
  hgvsp: ENSP00000439282.1:p.Val546Ile
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2491G>A
  hgvsp: ENSP00000355926.3:p.Val831Ile
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2341G>A
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42869
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3207
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val843Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-213415355-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415355
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415355
    reference: chr 1
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1645T>C
  hgvsp: ENSP00000439282.1:p.Phe549Leu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2536T>C
  hgvsp: ENSP00000355927.3:p.Phe846Leu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2500T>C
  hgvsp: ENSP00000355926.3:p.Phe834Leu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1900T>C
  hgvsp: ENSP00000442306.1:p.Phe634Leu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2350T>C
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe846Leu
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

1-213415358-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415358
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415358
    reference: chr 1
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2353A>G
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2503A>G
  hgvsp: ENSP00000355926.3:p.Thr835Ala
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2539A>G
  hgvsp: ENSP00000355927.3:p.Thr847Ala
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1648A>G
  hgvsp: ENSP00000439282.1:p.Thr550Ala
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1903A>G
  hgvsp: ENSP00000442306.1:p.Thr635Ala
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3206
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr847Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum

1-213415378-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415378
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415378
    reference: chr 1
allele count: 1219
allele frequency: 1.005576453507556e-2
allele num: 121224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2523G>T
  hgvsp: ENSP00000355926.3:p.Leu841Phe
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1668G>T
  hgvsp: ENSP00000439282.1:p.Leu556Phe
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1923G>T
  hgvsp: ENSP00000442306.1:p.Leu641Phe
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2559G>T
  hgvsp: ENSP00000355927.3:p.Leu853Phe
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2373G>T
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 9.75e1
  variant carriers: 841
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 14331
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 11169
  bin: 3.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 28474
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 42647
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2068
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu853Phe
num of homozygotes: 62
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

1-213415382-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415382
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415382
    reference: chr 1
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2377A>G
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1672A>G
  hgvsp: ENSP00000439282.1:p.Lys558Glu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2527A>G
  hgvsp: ENSP00000355926.3:p.Lys843Glu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2563A>G
  hgvsp: ENSP00000355927.3:p.Lys855Glu
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1927A>G
  hgvsp: ENSP00000442306.1:p.Lys643Glu
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys855Glu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

1-213415386-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415386
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415386
    reference: chr 1
allele count: 5
allele frequency: 4.12452774157359e-5
allele num: 121226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1931A>G
  hgvsp: ENSP00000442306.1:p.Glu644Gly
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1676A>G
  hgvsp: ENSP00000439282.1:p.Glu559Gly
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2567A>G
  hgvsp: ENSP00000355927.3:p.Glu856Gly
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2531A>G
  hgvsp: ENSP00000355926.3:p.Glu844Gly
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2381A>G
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7577
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu856Gly
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-213415390-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415390
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415390
    reference: chr 1
allele count: 2
allele frequency: 1.649647800194658e-5
allele num: 121238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2535A>G
  hgvsp: ENST00000366959.3:c.2535A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1680A>G
  hgvsp: ENST00000543354.1:c.1680A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2385A>G
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2571A>G
  hgvsp: ENST00000366960.3:c.2571A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1935A>G
  hgvsp: ENST00000543470.1:c.1935A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7579
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43381
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu857Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

1-213415392-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 213415392
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 213415392
    reference: chr 1
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000442306
  ensembl transcript: ENST00000543470
  gene symbol: RPS6KC1
  hgvsc: ENST00000543470.1:c.1937C>G
  hgvsp: ENSP00000442306.1:p.Pro646Arg
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355926
  ensembl transcript: ENST00000366959
  gene symbol: RPS6KC1
  hgvsc: ENST00000366959.3:c.2537C>G
  hgvsp: ENSP00000355926.3:p.Pro846Arg
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136643
  ensembl transcript: ENST00000490299
  gene symbol: RPS6KC1
  hgvsc: ENST00000490299.1:n.2387C>G
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000439282
  ensembl transcript: ENST00000543354
  gene symbol: RPS6KC1
  hgvsc: ENST00000543354.1:c.1682C>G
  hgvsp: ENSP00000439282.1:p.Pro561Arg
  variant of: http://identifiers.org/hgnc/10439
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136643
  ensembl protein: ENSP00000355927
  ensembl transcript: ENST00000366960
  gene symbol: RPS6KC1
  hgvsc: ENST00000366960.3:c.2573C>G
  hgvsp: ENSP00000355927.3:p.Pro858Arg
  variant of: http://identifiers.org/hgnc/10439
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro858Arg
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41916
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
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: 908
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

DP
type: SiteQuality
SIO_000300: 1.759187e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.15e-1

QD
type: SiteQuality
SIO_000300: 2.039e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.46e0

MQ
type: SiteQuality
SIO_000300: 5.838e1

VQSLOD
type: SiteQuality
SIO_000300: -2.177e0

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

FS
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.35e-1

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2191
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3253
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

FS
type: SiteQuality
SIO_000300: 5.77e-1

DP
type: SiteQuality
SIO_000300: 1.759243e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

QD
type: SiteQuality
SIO_000300: 1.136e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

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

GenotypeQuality
all individuals: 728
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3257
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 7954
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

African
type: Population
allele count: 7
allele frequency: 6.815968841285297e-4
allele num: 10270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
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: 908
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.81e0

QD
type: SiteQuality
SIO_000300: 1.526e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.49e-1

DP
type: SiteQuality
SIO_000300: 1.759076e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.63e-1

GenotypeQuality
all individuals: 3250
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2179
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7913
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.48e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

DP
type: SiteQuality
SIO_000300: 1.756023e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.904e0

FS
type: SiteQuality
SIO_000300: 4.77e0

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.463e0

QD
type: SiteQuality
SIO_000300: 1.514e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.17e-1

GenotypeQuality
all individuals: 159
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1297
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2180
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.163602513381429e-4
allele num: 8594
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.84e-1

QD
type: SiteQuality
SIO_000300: 1.565e1

MQRankSum
type: SiteQuality
SIO_000300: 6.58e-1

DP
type: SiteQuality
SIO_000300: 1.753546e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.91e-1

FS
type: SiteQuality
SIO_000300: 5.331e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e0

GenotypeQuality
all individuals: 7867
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3249
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 41122
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 8.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502810255177181e-5
allele num: 66542
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

DP
type: SiteQuality
SIO_000300: 1.750128e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

QD
type: SiteQuality
SIO_000300: 1.371e1

FS
type: SiteQuality
SIO_000300: 2.205e0

VQSLOD
type: SiteQuality
SIO_000300: -3.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.36e0

GenotypeQuality
all individuals: 421
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 162
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 5.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66540
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

QD
type: SiteQuality
SIO_000300: 1.407e1

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.78e0

DP
type: SiteQuality
SIO_000300: 1.748368e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.58e-1

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40321
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7667
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 8.25e1
variant carriers: 1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66498
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.805844283192783e-5
allele num: 10198
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 2.348e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.05e0

DP
type: SiteQuality
SIO_000300: 1.741321e6

MQ
type: SiteQuality
SIO_000300: 5.928e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

VQSLOD
type: SiteQuality
SIO_000300: 5.570000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.151e1

GenotypeQuality
all individuals: 2218
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7602
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3250
bin: 9.75e1
variant carriers: 2

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66478
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.803921568627451e-5
allele num: 10200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.51e-1

QD
type: SiteQuality
SIO_000300: 1.387e1

DP
type: SiteQuality
SIO_000300: 1.740322e6

FS
type: SiteQuality
SIO_000300: 4.506e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.433e0

GenotypeQuality
all individuals: 387
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1282
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2214
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.803921568627451e-5
allele num: 10200
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66478
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.017e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.394e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 1.739694e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

QD
type: SiteQuality
SIO_000300: 1.446e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.207e0

GenotypeQuality
all individuals: 308
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7587
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2106
bin: 7.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
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African
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allele count: 1
allele frequency: 9.782821365681862e-5
allele num: 10222
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66490
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 7.3e-3

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 1.740213e6

MQRankSum
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SIO_000300: 3.65e-1

BaseQRankSum
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.276e0

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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bin: 7.25e1
variant carriers: 0

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

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

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.50407604608489e-5
allele num: 66486
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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FS
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VQSLOD
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DP
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InbreedingCoeff
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SIO_000300: 6.5e-3

MQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e-1

MQ
type: SiteQuality
SIO_000300: 4.889e1

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 906
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66464
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8534
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

Latino
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allele frequency: 8.762705923589205e-5
allele num: 11412
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10216
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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DP
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VQSLOD
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MQRankSum
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MQ
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.26e-1

BaseQRankSum
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SIO_000300: -3.465e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.16795141322121e-4
allele num: 8562
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South Asian
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allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66512
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 8.81e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
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SIO_000300: 1.746246e6

BaseQRankSum
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InbreedingCoeff
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FS
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SIO_000300: 4.127e0

ClippingRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10348
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Latino
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allele count: 1
allele frequency: 8.761170492377782e-5
allele num: 11414
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66524
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16502
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.641e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.555e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e0

MQRankSum
type: SiteQuality
SIO_000300: 8.79e-1

DP
type: SiteQuality
SIO_000300: 1.747562e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 720
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8588
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African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.893e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

DP
type: SiteQuality
SIO_000300: 1.751978e6

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

East Asian
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allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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FS
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.405e1

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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variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.162790697674419e-4
allele num: 8600
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66604
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Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

South Asian
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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QD
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VQSLOD
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ClippingRankSum
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MQRankSum
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FS
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-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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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
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Other
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South Asian
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African
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 2.325581395348837e-4
allele num: 8600
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

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

East Asian
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European (Finnish)
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European (Non-Finnish)
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allele num: 66620
num of homozygotes: 0

African
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Latino
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South Asian
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num of homozygotes: 0

Other
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num of homozygotes: 0

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

South Asian
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allele num: 16508
num of homozygotes: 0

Latino
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European (Non-Finnish)
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African
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele num: 6600
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Other
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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South Asian
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Other
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East Asian
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allele frequency: 2.321801718133271e-4
allele num: 8614
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -4.617e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

FS
type: SiteQuality
SIO_000300: 3.686e0

VQSLOD
type: SiteQuality
SIO_000300: -1.329e0

DP
type: SiteQuality
SIO_000300: 1.755636e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.51e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.76e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 2.945e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 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: 8630
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 7.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.48e0

QD
type: SiteQuality
SIO_000300: 1.558e1

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

DP
type: SiteQuality
SIO_000300: 1.756279e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.091e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.945e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.01e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 8.49e-1

DP
type: SiteQuality
SIO_000300: 1.75649e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

QD
type: SiteQuality
SIO_000300: 1.255e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.32e-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
all individuals: 33
bin: 2.75e1
variant carriers: 0

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

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

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

Latino
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allele count: 1
allele frequency: 8.721437292865864e-5
allele num: 11466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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VQSLOD
type: SiteQuality
SIO_000300: 3.01e0

DP
type: SiteQuality
SIO_000300: 1.75649e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

FS
type: SiteQuality
SIO_000300: 8.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.32e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.456e0

QD
type: SiteQuality
SIO_000300: 1.255e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.79e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 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: 908
num of homozygotes: 0

African
type: Population
allele count: 26
allele frequency: 2.498558523928503e-3
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.709284096847239e-5
allele num: 11482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

FS
type: SiteQuality
SIO_000300: 1.847e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.75958e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.82e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.69e0

QD
type: SiteQuality
SIO_000300: 1.429e1

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: 30
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variant carriers: 0

GenotypeQuality
all individuals: 42884
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.57e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.757499e6

MQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.276e0

FS
type: SiteQuality
SIO_000300: 7.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.066e1

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: 12
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GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.362e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

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

FS
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
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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bin: 8.25e1
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8646
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Latino
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allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 14
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GenotypeQuality
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variant carriers: 0

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

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

East Asian
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allele frequency: 1.156336725254394e-4
allele num: 8648
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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.631e0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

Latino
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allele frequency: 1.73973556019485e-4
allele num: 11496
num of homozygotes: 0

European (Finnish)
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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
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num of homozygotes: 0

Other
type: Population
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allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.757888e6

FS
type: SiteQuality
SIO_000300: 2.004e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.343e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.236e1

GenotypeQuality
all individuals: 7567
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 8.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 1.492e1

DP
type: SiteQuality
SIO_000300: 1.757827e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.288e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.429999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.905e0

VQSLOD
type: SiteQuality
SIO_000300: 3.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.068e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeQuality
all individuals: 42949
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2072
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7566
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.99538355466291e-5
allele num: 66718
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 1.758155e6

FS
type: SiteQuality
SIO_000300: 2.454e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.006e0

MQRankSum
type: SiteQuality
SIO_000300: -5.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.82e-1

QD
type: SiteQuality
SIO_000300: 1.348e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.99e1

GenotypeQuality
all individuals: 714
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2072
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42960
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 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: 16510
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.93e0

MQRankSum
type: SiteQuality
SIO_000300: 4.45e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 3.966e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.758021e6

QD
type: SiteQuality
SIO_000300: 1.573e1

VQSLOD
type: SiteQuality
SIO_000300: -3.444e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2155
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 8
allele frequency: 7.690828686791001e-4
allele num: 10402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.845548152634767e-4
allele num: 16510
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: 12
allele frequency: 1.044204664114166e-3
allele num: 11492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 3.596798849024368e-4
allele num: 66726
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e-1

DP
type: SiteQuality
SIO_000300: 1.762118e6

VQSLOD
type: SiteQuality
SIO_000300: 5.28e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.736e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.263e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

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

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2073
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variant carriers: 0

GenotypeQuality
all individuals: 1276
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3227
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 2.526e0

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

MQ
type: SiteQuality
SIO_000300: 6.047e1

DP
type: SiteQuality
SIO_000300: 1.7579e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
SIO_000300: 1.198e1

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
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variant carriers: 0

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

GenotypeQuality
all individuals: 2158
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7580
bin: 6.75e1
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: 16510
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 2.526e0

MQ
type: SiteQuality
SIO_000300: 6.047e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.198e1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

DP
type: SiteQuality
SIO_000300: 1.7579e6

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 2160
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3226
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variant carriers: 1

GenotypeQuality
all individuals: 1275
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.757762e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 6.899999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

QD
type: SiteQuality
SIO_000300: 1.598e1

MQRankSum
type: SiteQuality
SIO_000300: -2.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 2.351e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-2

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
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GenotypeQuality
all individuals: 567
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 42923
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.652509652509652e-5
allele num: 10360
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: 8646
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.443e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 6.63e-1

QD
type: SiteQuality
SIO_000300: 1.369e1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 1.757252e6

VQSLOD
type: SiteQuality
SIO_000300: 4.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 3228
bin: 9.75e1
variant carriers: 6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7567
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496133325340207e-5
allele num: 66724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.610966057441253e-4
allele num: 11490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

MQRankSum
type: SiteQuality
SIO_000300: -5.84e-1

DP
type: SiteQuality
SIO_000300: 1.757727e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.04e0

QD
type: SiteQuality
SIO_000300: 1.617e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.14e-1

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
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GenotypeQuality
all individuals: 25
bin: 3.25e1
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GenotypeQuality
all individuals: 7567
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3228
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 705
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.757727e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.14e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.84e-1

QD
type: SiteQuality
SIO_000300: 1.617e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.04e0

GenotypeQuality
all individuals: 566
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 7569
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GenotypeQuality
all individuals: 1274
bin: 8.25e1
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GenotypeQuality
all individuals: 3225
bin: 9.75e1
variant carriers: 2

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.929999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 5.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

DP
type: SiteQuality
SIO_000300: 1.756842e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.376e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.004e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.78e-1

QD
type: SiteQuality
SIO_000300: 1.079e1

DP
type: SiteQuality
SIO_000300: 1.756308e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.24e-1

GenotypeQuality
all individuals: 7566
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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: 66720
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.714396735962697e-5
allele num: 10294
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

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

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.307e0

DP
type: SiteQuality
SIO_000300: 1.755897e6

QD
type: SiteQuality
SIO_000300: 1.145e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.42e0

FS
type: SiteQuality
SIO_000300: 6.835e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2070
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.37e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

VQSLOD
type: SiteQuality
SIO_000300: -3.272e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.055e0

FS
type: SiteQuality
SIO_000300: 2.159e0

DP
type: SiteQuality
SIO_000300: 1.755018e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -9.47e-1

QD
type: SiteQuality
SIO_000300: 1.52e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.754705e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.301e0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 8.728999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.76e-1

MQ
type: SiteQuality
SIO_000300: 5.838e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

QD
type: SiteQuality
SIO_000300: 1.478e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42615
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.99e0

VQSLOD
type: SiteQuality
SIO_000300: 5.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.546e1

DP
type: SiteQuality
SIO_000300: 1.753606e6

GenotypeQuality
all individuals: 704
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 7560
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e0

FS
type: SiteQuality
SIO_000300: 3.581e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.15e0

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

DP
type: SiteQuality
SIO_000300: 1.753518e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

QD
type: SiteQuality
SIO_000300: 1.55e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3220
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998231043684226e-5
allele num: 66706
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.753586e6

FS
type: SiteQuality
SIO_000300: 5.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

VQSLOD
type: SiteQuality
SIO_000300: 6.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.22e-1

QD
type: SiteQuality
SIO_000300: 1.392e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 42582
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.704735376044568e-5
allele num: 11488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.635482307319437e-4
allele num: 16504
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

MQ
type: SiteQuality
SIO_000300: 5.987e1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.43e0

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.753787e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.04e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16504
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.931e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.72e-1

DP
type: SiteQuality
SIO_000300: 1.753231e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.25e1
variant carriers: 0

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

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

Latino
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allele frequency: 2.610511660285416e-4
allele num: 11492
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.496251874062968e-5
allele num: 66700
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.18e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

DP
type: SiteQuality
SIO_000300: 1.754501e6

MQRankSum
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
all individuals: 1265
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.949025487256372e-4
allele num: 66700
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.846396218983852e-5
allele num: 10156
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

South Asian
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allele num: 16504
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

DP
type: SiteQuality
SIO_000300: 1.754501e6

FS
type: SiteQuality
SIO_000300: 5.18e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.264e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

European (Non-Finnish)
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allele count: 26
allele frequency: 3.89816786110528e-4
allele num: 66698
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10152
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

DP
type: SiteQuality
SIO_000300: 1.754664e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 54
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.704735376044568e-5
allele num: 11488
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

VQSLOD
type: SiteQuality
SIO_000300: -1.023e0

BaseQRankSum
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DP
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FS
type: SiteQuality
SIO_000300: 9.561e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

QD
type: SiteQuality
SIO_000300: 1.648e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3217
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variant carriers: 9

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10150
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East Asian
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allele count: 9
allele frequency: 1.041184636742249e-3
allele num: 8644
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.25e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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QD
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MQ
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.753442e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
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DP
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VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.83671060397403e-5
allele num: 10166
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.709284096847239e-5
allele num: 11482
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.4e0

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.048e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.752889e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.29e-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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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.9e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.913e0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.41e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.287e1

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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bin: 2.25e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10186
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 16506
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
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allele num: 66712
num of homozygotes: 0

South Asian
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allele num: 16506
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European (Finnish)
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allele num: 6614
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Latino
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East Asian
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African
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Other
type: Population
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allele num: 908
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 9.798157946306095e-5
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European (Finnish)
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South Asian
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allele num: 16506
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European (Non-Finnish)
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allele frequency: 5.996462087368453e-5
allele num: 66706
num of homozygotes: 0

East Asian
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Other
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Latino
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allele num: 11494
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
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BaseQRankSum
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VQSLOD
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MQRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

European (Non-Finnish)
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Other
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allele num: 908
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South Asian
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allele num: 16508
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African
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Latino
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East Asian
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European (Finnish)
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num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.755094e6

MQRankSum
type: SiteQuality
SIO_000300: -2.475e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.705e0

VQSLOD
type: SiteQuality
SIO_000300: -3.247e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

FS
type: SiteQuality
SIO_000300: 5.838e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.379e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 9.31e0

GenotypeQuality
all individuals: 7541
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42934
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3206
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2165
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2056
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.17e0

MQ
type: SiteQuality
SIO_000300: 5.99e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.755855e6

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.74e-1

QD
type: SiteQuality
SIO_000300: 1.369e1

FS
type: SiteQuality
SIO_000300: 3.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

GenotypeQuality
all individuals: 699
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7542
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2057
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1265
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.427e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.84e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.0e-3

MQ
type: SiteQuality
SIO_000300: 5.984e1

DP
type: SiteQuality
SIO_000300: 1.755922e6

QD
type: SiteQuality
SIO_000300: 1.433e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.44e0

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

GenotypeQuality
all individuals: 646
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7420
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4036
bin: 9.75e1
variant carriers: 1154

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 55
allele frequency: 4.785105272315991e-3
allele num: 11494
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.451902108068815e-4
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 1125
allele frequency: 1.088007736943907e-1
allele num: 10340
num of homozygotes: 62

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 4.19702011571784e-4
allele num: 66714
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.354e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.51e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.025e0

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 1.859489e6

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

GenotypeQuality
all individuals: 2117
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43377
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2985
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7578
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 1.0679e1

QD
type: SiteQuality
SIO_000300: 1.305e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.55e0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -9.862e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.32e-1

DP
type: SiteQuality
SIO_000300: 1.74987e6

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

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2117
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2016
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43382
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

East Asian
type: Population
allele count: 5
allele frequency: 5.783021050196623e-4
allele num: 8646
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
SIO_000300: 5.902e1

MQRankSum
type: SiteQuality
SIO_000300: 6.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.07e-1

DP
type: SiteQuality
SIO_000300: 1.750386e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.45e-1

QD
type: SiteQuality
SIO_000300: 1.266e1

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

GenotypeQuality
all individuals: 673
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2984
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 535
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1219
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

DP
type: SiteQuality
SIO_000300: 1.749978e6

QD
type: SiteQuality
SIO_000300: 1.419e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1