22-39712953-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39712953
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39712953
    reference: chr 22
allele count: 1
allele frequency: 1.00164269401819e-5
allele num: 99836
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-107A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-107A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-107A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1099A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.439A>G
  hgvsp: ENSP00000416273.1:p.Asn147Asp
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-107A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-107A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.121A>G
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7942
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4478
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17559
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn147Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

22-39712956-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39712956
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39712956
    reference: chr 22
allele count: 3
allele frequency: 3.041732570872369e-5
allele num: 98628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1096G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-110G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-110G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.436G>A
  hgvsp: ENSP00000416273.1:p.Gly146Ser
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-110G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-110G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.118G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-110G>A
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6332
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6752
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8867
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19140
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10066
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17910
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly146Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

22-39712957-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39712957
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39712957
    reference: chr 22
allele count: 2
allele frequency: 2.043193102180087e-5
allele num: 97886
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-111C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-111C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-111C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.117C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.435C>T
  hgvsp: ENST00000420536.1:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-111C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1095C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-111C>T
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9308
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6237
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3402
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala145Ala
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

22-39712957-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39712957
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39712957
    reference: chr 22
allele count: 1
allele frequency: 1.021596551090044e-5
allele num: 97886
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-111C>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-111C>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-111C>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.435C>G
  hgvsp: ENST00000420536.1:c.435C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-111C>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.117C>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-111C>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1095C>G
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3402
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13278
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala145Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

22-39712958-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39712958
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39712958
    reference: chr 22
allele count: 1
allele frequency: 1.023143506108167e-5
allele num: 97738
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-112C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-112C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.434C>T
  hgvsp: ENSP00000416273.1:p.Ala145Val
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1094C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-112C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.116C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-112C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-112C>T
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19404
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18042
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4859
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala145Val
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

22-39712974-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39712974
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39712974
    reference: chr 22
allele count: 3
allele frequency: 3.30011220381493e-5
allele num: 90906
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-128A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-128A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.100A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-128A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-128A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.418A>G
  hgvsp: ENSP00000416273.1:p.Lys140Glu
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-128A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1078A>G
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13921
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2417
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8060
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5624
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys140Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

22-39712975-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39712975
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39712975
    reference: chr 22
allele count: 3
allele frequency: 3.338155112940915e-5
allele num: 89870
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-129A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.99A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-129A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-129A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.417A>G
  hgvsp: ENST00000420536.1:c.417A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1077A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-129A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-129A>G
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17613
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13876
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9631
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5974
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4596
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly139Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/22-39712980-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39712980
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39712980
    reference: chr 22
allele count: 1
allele frequency: 1.192094032377274e-5
allele num: 83886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-134G>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.412G>T
  hgvsp: ENSP00000416273.1:p.Gly138Cys
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1072G>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-134G>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.94G>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-134G>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-134G>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-134G>T
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13649
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5426
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4365
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5962
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly138Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

22-39712980-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39712980
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39712980
    reference: chr 22
allele count: 1
allele frequency: 1.192094032377274e-5
allele num: 83886
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-134G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.94G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.412G>A
  hgvsp: ENSP00000416273.1:p.Gly138Ser
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-134G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1072G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-134G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-134G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-134G>A
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10167
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13649
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7293
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4365
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5426
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5737
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5962
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly138Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff

22-39712981-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39712981
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39712981
    reference: chr 22
allele count: 80971
allele frequency: 9.210041403157559e-1
allele num: 87916
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-135T>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.411T>C
  hgvsp: ENST00000420536.1:c.411T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-135T>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.93T>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1071T>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-135T>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-135T>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-135T>C
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 2.5e0
  variant carriers: 1955
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 2.75e1
  variant carriers: 3001
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 13833
  bin: 1.75e1
  variant carriers: 13777
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 10566
  bin: 7.5e0
  variant carriers: 10082
genotype depth: GenotypeDepth
  all individuals: 17241
  bin: 1.25e1
  variant carriers: 17008
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 221
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.75e1
  variant carriers: 634
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 185
genotype depth: GenotypeDepth
  all individuals: 7123
  bin: 2.25e1
  variant carriers: 7089
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 3.25e1
  variant carriers: 1395
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 365
genotype quality: GenotypeQuality
  all individuals: 5564
  bin: 3.25e1
  variant carriers: 5545
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 2.75e1
  variant carriers: 2485
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 1.75e1
  variant carriers: 2727
genotype quality: GenotypeQuality
  all individuals: 4211
  bin: 2.25e1
  variant carriers: 3957
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 8.75e1
  variant carriers: 476
genotype quality: GenotypeQuality
  all individuals: 3095
  bin: 6.25e1
  variant carriers: 3055
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 2.5e0
  variant carriers: 189
genotype quality: GenotypeQuality
  all individuals: 5886
  bin: 3.75e1
  variant carriers: 5877
hgvs: p.Ala137Ala
num of homozygotes: 37224
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

22-39712988-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39712988
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39712988
    reference: chr 22
allele count: 2
allele frequency: 4.387889425186486e-5
allele num: 45580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-142C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-142C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1064C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-142C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-142C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-142C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.404C>T
  hgvsp: ENSP00000416273.1:p.Pro135Leu
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.86C>T
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23904
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10348
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15663
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1968
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro135Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

22-39712988-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39712988
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39712988
    reference: chr 22
allele count: 11
allele frequency: 2.413339183852567e-4
allele num: 45580
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.86C>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1064C>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-142C>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-142C>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.404C>A
  hgvsp: ENSP00000416273.1:p.Pro135Gln
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-142C>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-142C>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-142C>A
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15663
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23904
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10729
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1968
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro135Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/22-39712990-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39712990
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39712990
    reference: chr 22
allele count: 1
allele frequency: 2.237136465324385e-5
allele num: 44700
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-144T>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.402T>G
  hgvsp: ENST00000420536.1:c.402T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1062T>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-144T>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.84T>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-144T>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-144T>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-144T>G
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23955
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10947
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4034
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala134Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

22-39712994-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39712994
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39712994
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 42100
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-148A>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1058A>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-148A>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.398A>C
  hgvsp: ENSP00000416273.1:p.Gln133Pro
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.80A>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-148A>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-148A>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-148A>C
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12379
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15023
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23667
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31502
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln133Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

22-39712995-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39712995
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39712995
    reference: chr 22
allele count: 1
allele frequency: 2.380498952580461e-5
allele num: 42008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-149C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-149C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.79C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.397C>T
  hgvsp: ENSP00000416273.1:p.Gln133Ter
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-149C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-149C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1057C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-149C>T
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12469
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14963
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12863
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3553
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln133Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

22-39713003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713003
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713003
    reference: chr 22
allele count: 1
allele frequency: 2.792672028596962e-5
allele num: 35808
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.389G>A
  hgvsp: ENSP00000416273.1:p.Ser130Asn
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-157G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-157G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1049G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-157G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.71G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-157G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-157G>A
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22524
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15932
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16480
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29062
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser130Asn
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/22-39713006-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713006
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713006
    reference: chr 22
allele count: 2
allele frequency: 5.809562539940742e-5
allele num: 34426
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-160T>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-160T>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.386T>G
  hgvsp: ENSP00000416273.1:p.Met129Arg
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.68T>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-160T>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-160T>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-160T>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1046T>G
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13068
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17095
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22184
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Met129Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD

22-39713008-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713008
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713008
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 31108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-162G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.384G>A
  hgvsp: ENST00000420536.1:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-162G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1044G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-162G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-162G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.66G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-162G>A
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19010
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21127
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19727
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro128Pro
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

22-39713009-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713009
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713009
    reference: chr 22
allele count: 32
allele frequency: 1.03359173126615e-3
allele num: 30960
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-163C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.383C>T
  hgvsp: ENSP00000416273.1:p.Pro128Leu
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1043C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.65C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-163C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-163C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-163C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-163C>T
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12124
  bin: 1.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19127
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21210
  bin: 7.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 9.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.75e1
  variant carriers: 1
hgvs: p.Pro128Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

22-39713010-GGCAGAGC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713010
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713003
    reference: chr 22
allele count: 2
allele frequency: 6.452861844227915e-5
allele num: 30994
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1035_1041delGCTCTGC
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.57_63delGCTCTGC
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.375_381delGCTCTGC
  hgvsp: ENSP00000416273.1:p.Leu126ArgfsTer2
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21258
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12029
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20011
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu126ArgfsTer2
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: GGCAGAGC
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

22-39713012-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713012
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713012
    reference: chr 22
allele count: 4
allele frequency: 1.423588867535056e-4
allele num: 28098
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-166G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-166G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.62G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-166G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-166G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.380G>A
  hgvsp: ENSP00000416273.1:p.Cys127Tyr
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-166G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1040G>A
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11190
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21397
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19998
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22230
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys127Tyr
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

22-39713014-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713014
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713014
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 24864
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-168C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.378C>T
  hgvsp: ENST00000420536.1:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-168C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-168C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1038C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.60C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-168C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-168C>T
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23549
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18872
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24381
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu126Leu
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

22-39713018-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713018
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713018
    reference: chr 22
allele count: 2
allele frequency: 8.246062505153789e-5
allele num: 24254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-172G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-172G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-172G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.56G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1034G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-172G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-172G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.374G>A
  hgvsp: ENSP00000416273.1:p.Arg125Gln
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18964
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23911
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9755
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg125Gln
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP

22-39713019-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713019
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713019
    reference: chr 22
allele count: 2
allele frequency: 1.020199959192002e-4
allele num: 19604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1033C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-173C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.373C>T
  hgvsp: ENSP00000416273.1:p.Arg125Trp
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-173C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-173C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.55C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-173C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-173C>T
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26551
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2259
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg125Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

22-39713022-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713022
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713022
    reference: chr 22
allele count: 13
allele frequency: 6.694129763130793e-4
allele num: 19420
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1030G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-176G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-176G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-176G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.52G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.370G>A
  hgvsp: ENSP00000416273.1:p.Ala124Thr
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-176G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-176G>A
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26921
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17332
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7889
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27844
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 9.75e1
  variant carriers: 11
hgvs: p.Ala124Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

22-39713023-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713023
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713023
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 19252
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-177C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-177C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-177C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1029C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.369C>T
  hgvsp: ENST00000420536.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.51C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-177C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-177C>T
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17341
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19530
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28049
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser123Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

22-39713027-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713027
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713027
    reference: chr 22
allele count: 1
allele frequency: 6.090875867949811e-5
allele num: 16418
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-181G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-181G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-181G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.47G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1026-1G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-181G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.366-1G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-181G>C
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17183
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 2.75e1
  variant carriers: 0
hgvs: c.366-1G>C
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

22-39713047-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713047
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713047
    reference: chr 22
allele count: 1
allele frequency: 1.621271076523995e-4
allele num: 6168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.27A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-201A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-201A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-201A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.366-21A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-201A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-201A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1026-21A>G
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3866
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

22-39713053-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713053
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713053
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 5532
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-207A>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-207A>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.366-27A>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-207A>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.21A>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-207A>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1026-27A>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-207A>C
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7508
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31643
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
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: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

22-39713062-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713062
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713062
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 4102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.366-36G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1026-36G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-216G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-216G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-216G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.821G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-216G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.12G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-216G>A
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 32806
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

22-39713063-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713063
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713063
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 4078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1026-37C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-217C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.366-37C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.11C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-217C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.820C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-217C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-217C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-217C>T
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32902
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2730
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/22-39713065-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713065
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713065
    reference: chr 22
allele count: 1
allele frequency: 2.600104004160167e-4
allele num: 3846
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1026-39T>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-219T>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.818T>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-219T>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.366-39T>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-219T>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484358
  gene symbol: RPL3
  hgvsc: ENST00000484358.1:n.9T>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-219T>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-219T>G
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32446
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25712
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

22-39713074-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713074
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713074
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 3366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.366-48T>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.210-228T>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1026-48T>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.447-228T>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.460-228T>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.210-228T>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.366-228T>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.809T>C
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31691
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12556
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/22-39713418-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713418
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713418
    reference: chr 22
allele count: 36
allele frequency: 3.055715886327369e-4
allele num: 117812
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.209+48G>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.365+48G>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.209+48G>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.613G>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1025+48G>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.465G>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.459+48G>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.365+48G>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.446+48G>T
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8996
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6219
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5963
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8276
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7928
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3588
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

22-39713419-C-CAGCTCCCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713419
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713427
    reference: chr 22
allele count: 6
allele frequency: 5.082764346102367e-5
allele num: 118046
alternate allele: CAGCTCCCA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.456_463dupTGGGAGCT
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.604_611dupTGGGAGCT
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8988
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7963
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8264
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

22-39713419-CAGCTCCCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713419
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713411
    reference: chr 22
allele count: 1563
allele frequency: 1.324060112159667e-2
allele num: 118046
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.604_611delTGGGAGCT
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.456_463delTGGGAGCT
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8988
  bin: 3.75e1
  variant carriers: 157
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 4.75e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 7963
  bin: 3.25e1
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 5947
  bin: 2.75e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 5.75e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 8264
  bin: 4.25e1
  variant carriers: 176
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 1.75e1
  variant carriers: 137
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 1.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 6.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 5.25e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 2.25e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 3600
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28097
  bin: 9.75e1
  variant carriers: 1489
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6149
  bin: 6.25e1
  variant carriers: 2
num of homozygotes: 58
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: CAGCTCCCA
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

22-39713425-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713425
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713425
    reference: chr 22
allele count: 1
allele frequency: 8.670019074041962e-6
allele num: 115340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.209+41G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.365+41G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.606G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.458G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.459+41G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1025+41G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.365+41G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.446+41G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.209+41G>A
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8096
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3641
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6782
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

22-39713432-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713432
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713432
    reference: chr 22
allele count: 3
allele frequency: 2.542976299460889e-5
allele num: 117972
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.365+34G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.446+34G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.209+34G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.599G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.365+34G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.459+34G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.451G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1025+34G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.209+34G>C
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8275
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3673
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

22-39713453-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713453
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713453
    reference: chr 22
allele count: 44
allele frequency: 3.673830636407661e-4
allele num: 119766
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.365+13G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.209+13G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.459+13G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1025+13G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.209+13G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.578G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.446+13G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.430G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.365+13G>C
  variant of: http://identifiers.org/hgnc/10332
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6275
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8505
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8269
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9056
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7540
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7056
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 10531
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4254
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/22-39713468-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713468
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713468
    reference: chr 22
allele count: 1
allele frequency: 8.273762245168123e-6
allele num: 120864
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.457T>G
  hgvsp: ENSP00000412713.1:p.Asn153Lys
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.207T>G
  hgvsp: ENSP00000385762.1:p.Asn69Lys
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.415T>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.363T>G
  hgvsp: ENSP00000346001.3:p.Asn121Lys
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.207T>G
  hgvsp: ENSP00000386101.1:p.Asn69Lys
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.363T>G
  hgvsp: ENSP00000416273.1:p.Asn121Lys
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1023T>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.444T>G
  hgvsp: ENSP00000415198.1:p.Asn148Lys
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.563T>G
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn121Lys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

22-39713469-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713469
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713469
    reference: chr 22
allele count: 4
allele frequency: 3.308628904182107e-5
allele num: 120896
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.362A>G
  hgvsp: ENSP00000416273.1:p.Asn121Ser
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.206A>G
  hgvsp: ENSP00000385762.1:p.Asn69Ser
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.443A>G
  hgvsp: ENSP00000415198.1:p.Asn148Ser
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1022A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.362A>G
  hgvsp: ENSP00000346001.3:p.Asn121Ser
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.562A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.456A>G
  hgvsp: ENSP00000412713.1:p.Asn153Ser
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.206A>G
  hgvsp: ENSP00000386101.1:p.Asn69Ser
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.414A>G
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6282
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27070
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3940
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn121Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

22-39713475-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713475
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713475
    reference: chr 22
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.408A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.200A>G
  hgvsp: ENSP00000385762.1:p.Tyr67Cys
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.200A>G
  hgvsp: ENSP00000386101.1:p.Tyr67Cys
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.356A>G
  hgvsp: ENSP00000346001.3:p.Tyr119Cys
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.437A>G
  hgvsp: ENSP00000415198.1:p.Tyr146Cys
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.450A>G
  hgvsp: ENSP00000412713.1:p.Tyr151Cys
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.356A>G
  hgvsp: ENSP00000416273.1:p.Tyr119Cys
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.556A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1016A>G
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr119Cys
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

22-39713478-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713478
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713478
    reference: chr 22
allele count: 1
allele frequency: 8.253412786187088e-6
allele num: 121162
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.353T>C
  hgvsp: ENSP00000346001.3:p.Phe118Ser
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.553T>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.353T>C
  hgvsp: ENSP00000416273.1:p.Phe118Ser
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.197T>C
  hgvsp: ENSP00000386101.1:p.Phe66Ser
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.434T>C
  hgvsp: ENSP00000415198.1:p.Phe145Ser
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.447T>C
  hgvsp: ENSP00000412713.1:p.Phe150Ser
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.1013T>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.405T>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.197T>C
  hgvsp: ENSP00000385762.1:p.Phe66Ser
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe118Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

22-39713492-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713492
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713492
    reference: chr 22
allele count: 2
allele frequency: 1.648478454386601e-5
allele num: 121324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.999A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.539A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.391A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.433A>G
  hgvsp: ENST00000427905.1:c.433A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.420A>G
  hgvsp: ENST00000453303.1:c.420A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.339A>G
  hgvsp: ENST00000216146.4:c.339A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.183A>G
  hgvsp: ENST00000401609.1:c.183A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.183A>G
  hgvsp: ENST00000402527.1:c.183A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.339A>G
  hgvsp: ENST00000420536.1:c.339A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu113Glu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/22-39713495-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713495
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713495
    reference: chr 22
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.388T>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.180T>G
  hgvsp: ENSP00000385762.1:p.Asp60Glu
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.417T>G
  hgvsp: ENSP00000415198.1:p.Asp139Glu
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.180T>G
  hgvsp: ENSP00000386101.1:p.Asp60Glu
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.336T>G
  hgvsp: ENSP00000346001.3:p.Asp112Glu
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.536T>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.336T>G
  hgvsp: ENSP00000416273.1:p.Asp112Glu
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.430T>G
  hgvsp: ENSP00000412713.1:p.Asp144Glu
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.996T>G
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12094
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3759
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp112Glu
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

22-39713495-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713495
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713495
    reference: chr 22
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.388T>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.417T>C
  hgvsp: ENST00000453303.1:c.417T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.336T>C
  hgvsp: ENST00000216146.4:c.336T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.180T>C
  hgvsp: ENST00000401609.1:c.180T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.180T>C
  hgvsp: ENST00000402527.1:c.180T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.536T>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.996T>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.430T>C
  hgvsp: ENST00000427905.1:c.430T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.336T>C
  hgvsp: ENST00000420536.1:c.336T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp112Asp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/22-39713510-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713510
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713510
    reference: chr 22
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.521T>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.165T>G
  hgvsp: ENST00000402527.1:c.165T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.373T>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.415T>G
  hgvsp: ENST00000427905.1:c.415T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.165T>G
  hgvsp: ENST00000401609.1:c.165T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.981T>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.321T>G
  hgvsp: ENST00000216146.4:c.321T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.321T>G
  hgvsp: ENST00000420536.1:c.321T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.402T>G
  hgvsp: ENST00000453303.1:c.402T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3956
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4529
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala107Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

22-39713516-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713516
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713516
    reference: chr 22
allele count: 206
allele frequency: 1.697345220242902e-3
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.159C>T
  hgvsp: ENST00000401609.1:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.515C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.159C>T
  hgvsp: ENST00000402527.1:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.975C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.409C>T
  hgvsp: ENST00000427905.1:c.409C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.396C>T
  hgvsp: ENST00000453303.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.367C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.315C>T
  hgvsp: ENST00000420536.1:c.315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.315C>T
  hgvsp: ENST00000216146.4:c.315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9075
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8746
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 146
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4512
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val105Val
num of homozygotes: 1
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

22-39713518-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713518
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713518
    reference: chr 22
allele count: 18
allele frequency: 1.483117182736516e-4
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.313G>C
  hgvsp: ENSP00000346001.3:p.Val105Leu
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.513G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.157G>C
  hgvsp: ENSP00000385762.1:p.Val53Leu
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.157G>C
  hgvsp: ENSP00000386101.1:p.Val53Leu
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.973G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.313G>C
  hgvsp: ENSP00000416273.1:p.Val105Leu
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.365G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.394G>C
  hgvsp: ENSP00000415198.1:p.Val132Leu
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.407G>C
  hgvsp: ENSP00000412713.1:p.Val137Leu
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val105Leu
num of homozygotes: 1
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

22-39713526-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713526
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713526
    reference: chr 22
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.305T>A
  hgvsp: ENSP00000346001.3:p.Phe102Tyr
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.399T>A
  hgvsp: ENSP00000412713.1:p.Phe134Tyr
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.305T>A
  hgvsp: ENSP00000416273.1:p.Phe102Tyr
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.386T>A
  hgvsp: ENSP00000415198.1:p.Phe129Tyr
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.149T>A
  hgvsp: ENSP00000385762.1:p.Phe50Tyr
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.965T>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.357T>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.149T>A
  hgvsp: ENSP00000386101.1:p.Phe50Tyr
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.505T>A
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8298
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2639
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe102Tyr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

22-39713527-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713527
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713527
    reference: chr 22
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.148T>C
  hgvsp: ENSP00000385762.1:p.Phe50Leu
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.398T>C
  hgvsp: ENSP00000412713.1:p.Phe134Leu
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.356T>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.504T>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.304T>C
  hgvsp: ENSP00000416273.1:p.Phe102Leu
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.385T>C
  hgvsp: ENSP00000415198.1:p.Phe129Leu
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.304T>C
  hgvsp: ENSP00000346001.3:p.Phe102Leu
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.964T>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.148T>C
  hgvsp: ENSP00000386101.1:p.Phe50Leu
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12080
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3761
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe102Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

22-39713541-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713541
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713541
    reference: chr 22
allele count: 3
allele frequency: 2.471658317954126e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.371G>A
  hgvsp: ENSP00000415198.1:p.Arg124Gln
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.290G>A
  hgvsp: ENSP00000346001.3:p.Arg97Gln
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.384G>A
  hgvsp: ENSP00000412713.1:p.Arg129Gln
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.950G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.134G>A
  hgvsp: ENSP00000385762.1:p.Arg45Gln
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.134G>A
  hgvsp: ENSP00000386101.1:p.Arg45Gln
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.290G>A
  hgvsp: ENSP00000416273.1:p.Arg97Gln
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.490G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.342G>A
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27127
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3921
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg97Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

22-39713564-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713564
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713564
    reference: chr 22
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.111T>C
  hgvsp: ENST00000401609.1:c.111T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.267T>C
  hgvsp: ENST00000216146.4:c.267T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.348T>C
  hgvsp: ENST00000453303.1:c.348T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.111T>C
  hgvsp: ENST00000402527.1:c.111T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.927T>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.467T>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.267T>C
  hgvsp: ENST00000420536.1:c.267T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.319T>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.361T>C
  hgvsp: ENST00000427905.1:c.361T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile89Ile
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

22-39713574-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713574
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713574
    reference: chr 22
allele count: 8
allele frequency: 6.591197455797781e-5
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.257T>C
  hgvsp: ENSP00000416273.1:p.Val86Ala
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.101T>C
  hgvsp: ENSP00000385762.1:p.Val34Ala
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.917T>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.101T>C
  hgvsp: ENSP00000386101.1:p.Val34Ala
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.351T>C
  hgvsp: ENSP00000412713.1:p.Val118Ala
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.457T>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.338T>C
  hgvsp: ENSP00000415198.1:p.Val113Ala
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.257T>C
  hgvsp: ENSP00000346001.3:p.Val86Ala
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.309T>C
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2638
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val86Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

22-39713587-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713587
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713587
    reference: chr 22
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.444C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.296C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.338C>T
  hgvsp: ENSP00000412713.1:p.Pro114Ser
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.904C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.325C>T
  hgvsp: ENSP00000415198.1:p.Pro109Ser
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.88C>T
  hgvsp: ENSP00000386101.1:p.Pro30Ser
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.244C>T
  hgvsp: ENSP00000346001.3:p.Pro82Ser
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.88C>T
  hgvsp: ENSP00000385762.1:p.Pro30Ser
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.244C>T
  hgvsp: ENSP00000416273.1:p.Pro82Ser
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro82Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

22-39713591-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713591
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713591
    reference: chr 22
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.321G>C
  hgvsp: ENSP00000415198.1:p.Glu107Asp
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.440G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.900G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.292G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.84G>C
  hgvsp: ENSP00000386101.1:p.Glu28Asp
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.334G>C
  hgvsp: ENSP00000412713.1:p.Glu112Asp
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.240G>C
  hgvsp: ENSP00000416273.1:p.Glu80Asp
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.240G>C
  hgvsp: ENSP00000346001.3:p.Glu80Asp
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.84G>C
  hgvsp: ENSP00000385762.1:p.Glu28Asp
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3762
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu80Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

22-39713600-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713600
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713600
    reference: chr 22
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.891C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.75C>T
  hgvsp: ENST00000402527.1:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.231C>T
  hgvsp: ENST00000420536.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.283C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.431C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.75C>T
  hgvsp: ENST00000401609.1:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.231C>T
  hgvsp: ENST00000216146.4:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.312C>T
  hgvsp: ENST00000453303.1:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.325C>T
  hgvsp: ENST00000427905.1:c.325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27127
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr77Thr
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

22-39713608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713608
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713608
    reference: chr 22
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.883G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.423G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.67G>A
  hgvsp: ENSP00000385762.1:p.Ala23Thr
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.223G>A
  hgvsp: ENSP00000346001.3:p.Ala75Thr
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.317G>A
  hgvsp: ENSP00000412713.1:p.Ala107Thr
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.67G>A
  hgvsp: ENSP00000386101.1:p.Ala23Thr
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.223G>A
  hgvsp: ENSP00000416273.1:p.Ala75Thr
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.304G>A
  hgvsp: ENSP00000415198.1:p.Ala102Thr
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.275G>A
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3763
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala75Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

22-39713612-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713612
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713612
    reference: chr 22
allele count: 140
allele frequency: 1.154582041301049e-3
allele num: 121256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.63G>A
  hgvsp: ENST00000401609.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.219G>A
  hgvsp: ENST00000216146.4:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.63G>A
  hgvsp: ENST00000402527.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.419G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.300G>A
  hgvsp: ENST00000453303.1:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.879G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.313G>A
  hgvsp: ENST00000427905.1:c.313G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.271G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.219G>A
  hgvsp: ENST00000420536.1:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9065
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7637
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6282
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8676
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8297
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4436
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3758
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val73Val
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

22-39713618-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713618
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713618
    reference: chr 22
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.57G>C
  hgvsp: ENSP00000385762.1:p.Glu19Asp
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.57G>C
  hgvsp: ENSP00000386101.1:p.Glu19Asp
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.294G>C
  hgvsp: ENSP00000415198.1:p.Glu98Asp
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.873G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.307G>C
  hgvsp: ENSP00000412713.1:p.Glu103Asp
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.213G>C
  hgvsp: ENSP00000346001.3:p.Glu71Asp
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.213G>C
  hgvsp: ENSP00000416273.1:p.Glu71Asp
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.265G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.413G>C
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8669
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4428
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu71Asp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum

22-39713625-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713625
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713625
    reference: chr 22
allele count: 1
allele frequency: 8.253412786187088e-6
allele num: 121162
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.866A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.287A>G
  hgvsp: ENSP00000415198.1:p.Lys96Arg
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.50A>G
  hgvsp: ENSP00000386101.1:p.Lys17Arg
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.258A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.50A>G
  hgvsp: ENSP00000385762.1:p.Lys17Arg
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.406A>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.300A>G
  hgvsp: ENSP00000412713.1:p.Lys101Arg
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.206A>G
  hgvsp: ENSP00000346001.3:p.Lys69Arg
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.206A>G
  hgvsp: ENSP00000416273.1:p.Lys69Arg
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8614
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3938
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4384
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys69Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

22-39713633-C-CTTGGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713633
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713638
    reference: chr 22
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: CTTGGA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.197_198insTCCAA
  hgvsp: ENSP00000416273.1:p.Lys66AsnfsTer4
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.278_279insTCCAA
  hgvsp: ENSP00000415198.1:p.Lys93AsnfsTer4
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.41_42insTCCAA
  hgvsp: ENSP00000385762.1:p.Lys14AsnfsTer4
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.291_292insTCCAA
  hgvsp: ENSP00000412713.1:p.Lys98AsnfsTer4
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.857_858insTCCAA
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.41_42insTCCAA
  hgvsp: ENSP00000386101.1:p.Lys14AsnfsTer4
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.197_198insTCCAA
  hgvsp: ENSP00000346001.3:p.Lys66AsnfsTer4
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.249_250insTCCAA
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.397_398insTCCAA
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3890
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys66AsnfsTer4
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

22-39713635-C-CCCGGCCTGTCGACTTCCCGCACGATGTGAGTCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713635
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713668
    reference: chr 22
allele count: 1
allele frequency: 8.26296045347127e-6
allele num: 121022
alternate allele: CCCGGCCTGTCGACTTCCCGCACGATGTGAGTCA
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: splice acceptor
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3944
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/22-39713638-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713638
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713639
    reference: chr 22
allele count: 110
allele frequency: 9.739339849837087e-4
allele num: 112944
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.857-5dupT
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.278-5dupT
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.291-5dupT
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.197-5dupT
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.41-5dupT
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.197-5dupT
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.397-5dupT
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.41-5dupT
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.249-5dupT
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 8142
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 6190
  bin: 2.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7730
  bin: 3.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8522
  bin: 3.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 2.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 1.25e1
  variant carriers: 25
hgvs: c.197-5dupT
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/22-39713638-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713638
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713637
    reference: chr 22
allele count: 387
allele frequency: 3.426476838079048e-3
allele num: 112944
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.41-5delT
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.249-5delT
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.197-5delT
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.397-5delT
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.197-5delT
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.857-5delT
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.41-5delT
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.291-5delT
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.278-5delT
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 8142
  bin: 4.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 6.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 8522
  bin: 3.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 8.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 6190
  bin: 2.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 9.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 4.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 2.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 5.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 5.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 7730
  bin: 3.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 6.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 5.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 5.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 2522
  bin: 2.5e0
  variant carriers: 12
hgvs: c.197-5delT
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: CA
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum

22-39713646-AAGC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713646
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713643
    reference: chr 22
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.197-15_197-13delGCT
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.857-15_857-13delGCT
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.278-15_278-13delGCT
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.249-15_249-13delGCT
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.291-15_291-13delGCT
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.197-15_197-13delGCT
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.41-15_41-13delGCT
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.397-15_397-13delGCT
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.41-15_41-13delGCT
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7830
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4448
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: AAGC
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

22-39713648-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713648
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713648
    reference: chr 22
allele count: 1
allele frequency: 8.2936619835122e-6
allele num: 120574
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.291-14C>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.249-14C>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.857-14C>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.397-14C>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.197-14C>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.41-14C>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.197-14C>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.278-14C>G
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.41-14C>G
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3655
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

22-39713649-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713649
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713649
    reference: chr 22
allele count: 1
allele frequency: 8.29324929507381e-6
allele num: 120580
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.278-15G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.197-15G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.397-15G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.41-15G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.291-15G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.857-15G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.41-15G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.197-15G>C
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.249-15G>C
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8363
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3655
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

22-39713654-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713654
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713654
    reference: chr 22
allele count: 2
allele frequency: 1.660550306371532e-5
allele num: 120442
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.278-20C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.857-20C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.397-20C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.249-20C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.41-20C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.41-20C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.197-20C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.197-20C>T
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.291-20C>T
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3692
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10298
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

22-39713656-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39713656
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 39713656
    reference: chr 22
allele count: 1
allele frequency: 8.30813199960121e-6
allele num: 120364
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000346001
  ensembl transcript: ENST00000216146
  gene symbol: RPL3
  hgvsc: ENST00000216146.4:c.197-22G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000415198
  ensembl transcript: ENST00000453303
  gene symbol: RPL3
  hgvsc: ENST00000453303.1:c.278-22G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000385762
  ensembl transcript: ENST00000402527
  gene symbol: RPL3
  hgvsc: ENST00000402527.1:c.41-22G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000416273
  ensembl transcript: ENST00000420536
  gene symbol: RPL3
  hgvsc: ENST00000420536.1:c.197-22G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000484615
  gene symbol: RPL3
  hgvsc: ENST00000484615.1:n.249-22G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000386101
  ensembl transcript: ENST00000401609
  gene symbol: RPL3
  hgvsc: ENST00000401609.1:c.41-22G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000460589
  gene symbol: RPL3
  hgvsc: ENST00000460589.1:n.397-22G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl transcript: ENST00000465618
  gene symbol: RPL3
  hgvsc: ENST00000465618.1:n.857-22G>A
  variant of: http://identifiers.org/hgnc/10332
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100316
  ensembl protein: ENSP00000412713
  ensembl transcript: ENST00000427905
  gene symbol: RPL3
  hgvsc: ENST00000427905.1:c.291-22G>A
  variant of: http://identifiers.org/hgnc/10332
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2559
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C

GenotypeQuality
all individuals: 789
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2889
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5496
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15969
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3098
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1166
bin: 9.75e1
variant carriers: 1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5458
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9404
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 54336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.499415052645263e-5
allele num: 15386
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.722e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.77e-1

DP
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

VQSLOD
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SIO_000300: -1.607e0

MQ
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SIO_000300: 5.475e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.47e-1

FS
type: SiteQuality
SIO_000300: 2.908e0

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7004
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.541933795629989e-5
allele num: 15286
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 1.085776330076004e-4
allele num: 9210
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5382
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.863099452248761e-5
allele num: 53674
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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DP
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SIO_000300: 1.054499e6

VQSLOD
type: SiteQuality
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MQRankSum
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QD
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ClippingRankSum
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SIO_000300: -1.309e0

BaseQRankSum
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SIO_000300: 2.06e0

MQ
type: SiteQuality
SIO_000300: 5.649e1

FS
type: SiteQuality
SIO_000300: 3.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 6.563402467839328e-5
allele num: 15236
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.444251877527441e-4
allele num: 6924
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53248
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9120
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7290
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.036064e6

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -8.017e-1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.203e0

BaseQRankSum
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SIO_000300: -3.477e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6924
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9120
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15236
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.878004807692308e-5
allele num: 53248
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.017e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.477e0

DP
type: SiteQuality
SIO_000300: 1.036064e6

FS
type: SiteQuality
SIO_000300: 3.203e0

MQ
type: SiteQuality
SIO_000300: 5.554e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-1

QD
type: SiteQuality
SIO_000300: 1.341e1

MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.69e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6910
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.880052641473961e-5
allele num: 53190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9082
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.682e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.905e0

VQSLOD
type: SiteQuality
SIO_000300: -1.154e0

FS
type: SiteQuality
SIO_000300: 4.181e0

QD
type: SiteQuality
SIO_000300: 8.43e0

DP
type: SiteQuality
SIO_000300: 1.033729e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

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

African
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allele count: 2
allele frequency: 2.949852507374631e-4
allele num: 6780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7934
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.571832756994656e-4
allele num: 6362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4908
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.27e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

VQSLOD
type: SiteQuality
SIO_000300: -1.184e0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.388e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.19e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.042817453832326e-5
allele num: 48952
num of homozygotes: 0

Latino
type: Population
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
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
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South Asian
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allele count: 2
allele frequency: 1.370426202548993e-4
allele num: 14594
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.023e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-1

FS
type: SiteQuality
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DP
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ClippingRankSum
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MQRankSum
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QD
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MQ
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4612
num of homozygotes: 0

East Asian
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.188950179493915e-5
allele num: 45684
num of homozygotes: 0

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

South Asian
type: Population
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
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VQSLOD
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DP
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FS
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6790
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4612
num of homozygotes: 0

Other
type: Population
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African
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East Asian
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allele count: 1
allele frequency: 1.710571330824495e-4
allele num: 5846
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45684
num of homozygotes: 0

South Asian
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MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

ReadPosRankSum
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MQ
type: SiteQuality
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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DP
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QD
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FS
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 4367

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8911

European (Non-Finnish)
type: Population
allele count: 42838
allele frequency: 8.964175106721353e-1
allele num: 47788
num of homozygotes: 19104

Other
type: Population
allele count: 593
allele frequency: 8.903903903903904e-1
allele num: 666
num of homozygotes: 262

European (Finnish)
type: Population
allele count: 4118
allele frequency: 8.622278056951423e-1
allele num: 4776
num of homozygotes: 1752

East Asian
type: Population
allele count: 6210
allele frequency: 9.983922829581994e-1
allele num: 6220
num of homozygotes: 3100

Latino
type: Population
allele count: 7052
allele frequency: 9.54004329004329e-1
allele num: 7392
num of homozygotes: 3360

South Asian
type: Population
allele count: 13988
allele frequency: 9.668233342549074e-1
allele num: 14468
num of homozygotes: 6765

African
type: Population
allele count: 6172
allele frequency: 9.343021495610051e-1
allele num: 6606
num of homozygotes: 2881

MQ
type: SiteQuality
SIO_000300: 5.554e1

VQSLOD
type: SiteQuality
SIO_000300: 3.2e0

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.37e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 9.91e-1

DP
type: SiteQuality
SIO_000300: 9.26182e5

QD
type: SiteQuality
SIO_000300: 3.362e1

GenotypeQuality
all individuals: 32063
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 852
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10729
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4201
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 1.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 8.101101749837978e-5
allele num: 24688
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2852
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.58e-2

FS
type: SiteQuality
SIO_000300: 7.871e0

QD
type: SiteQuality
SIO_000300: 1.127e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.132e-1

MQ
type: SiteQuality
SIO_000300: 5.545e1

MQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

DP
type: SiteQuality
SIO_000300: 5.75922e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

GenotypeQuality
all individuals: 162
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 642
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variant carriers: 1

GenotypeQuality
all individuals: 4201
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variant carriers: 0

GenotypeQuality
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variant carriers: 10

GenotypeQuality
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GenotypeQuality
all individuals: 32063
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24688
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3136
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 1.282051282051282e-3
allele num: 8580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2852
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.58e-2

FS
type: SiteQuality
SIO_000300: 7.871e0

MQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.132e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

MQ
type: SiteQuality
SIO_000300: 5.545e1

QD
type: SiteQuality
SIO_000300: 1.127e1

DP
type: SiteQuality
SIO_000300: 5.75922e5

GenotypeQuality
all individuals: 847
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
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GenotypeQuality
all individuals: 212
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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: 11267
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 70
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variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3086
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24168
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3570
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.676470588235294e-4
allele num: 2720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2318
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.76e-1

MQ
type: SiteQuality
SIO_000300: 5.909e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.59e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.777e0

QD
type: SiteQuality
SIO_000300: 1.314e1

DP
type: SiteQuality
SIO_000300: 5.6452e5

GenotypeQuality
all individuals: 182
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12764
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1771
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2386
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 559
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variant carriers: 0

GenotypeQuality
all individuals: 3433
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variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22760
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2454
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.86e-2

QD
type: SiteQuality
SIO_000300: 1.633e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

DP
type: SiteQuality
SIO_000300: 5.39911e5

VQSLOD
type: SiteQuality
SIO_000300: -1.381e0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 5.441e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

MQ
type: SiteQuality
SIO_000300: 5.074e1

GenotypeQuality
all individuals: 31947
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1440
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
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variant carriers: 0

GenotypeQuality
all individuals: 1734
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
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variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 8.75e1
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GenotypeQuality
all individuals: 2352
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2886
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.084967320261438e-4
allele num: 2448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2164
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.82e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.57e-1

QD
type: SiteQuality
SIO_000300: 3.077e1

MQ
type: SiteQuality
SIO_000300: 5.919e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.734e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.26e-1

DP
type: SiteQuality
SIO_000300: 5.38508e5

GenotypeQuality
all individuals: 2030
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 910
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GenotypeQuality
all individuals: 459
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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: 130
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 124
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 2424
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GenotypeQuality
all individuals: 1019
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2976
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1932
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.427755568246716e-4
allele num: 7004
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e0

DP
type: SiteQuality
SIO_000300: 4.86938e5

QD
type: SiteQuality
SIO_000300: 8.82e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.682e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.177e0

VQSLOD
type: SiteQuality
SIO_000300: -2.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.57e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.91e0

GenotypeQuality
all individuals: 1546
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1979
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1812
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.929973630237328e-4
allele num: 6826
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1814
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.122e1

DP
type: SiteQuality
SIO_000300: 4.71891e5

QD
type: SiteQuality
SIO_000300: 1.338e1

VQSLOD
type: SiteQuality
SIO_000300: -7.848000000000001e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1664
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16672
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.736e0

DP
type: SiteQuality
SIO_000300: 4.46843e5

QD
type: SiteQuality
SIO_000300: 1.571e1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQ
type: SiteQuality
SIO_000300: 5.804e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.15e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1856
bin: 6.25e1
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GenotypeQuality
all individuals: 29
bin: 9.25e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 3.819709702062643e-4
allele num: 2618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2084
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 1.387046194668918e-3
allele num: 16582
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 2.600780234070221e-3
allele num: 1538
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 6.43293663557414e-4
allele num: 6218
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

QD
type: SiteQuality
SIO_000300: 1.36e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.18e-2

MQ
type: SiteQuality
SIO_000300: 5.635e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.066e-1

DP
type: SiteQuality
SIO_000300: 4.45181e5

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 18
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.203514261644e-4
allele num: 16618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2088
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2614
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.11e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.66e0

DP
type: SiteQuality
SIO_000300: 4.4326e5

MQ
type: SiteQuality
SIO_000300: 5.223e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 347
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GenotypeQuality
all individuals: 18
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1332
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 7.027406886858749e-4
allele num: 5692
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15054
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1486
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.18036e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 5.728e1

VQSLOD
type: SiteQuality
SIO_000300: -1.135e0

MQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.65e-2

QD
type: SiteQuality
SIO_000300: 9.289999999999999e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1094
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1274
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.312e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

DP
type: SiteQuality
SIO_000300: 3.91159e5

QD
type: SiteQuality
SIO_000300: 8.59e0

MQ
type: SiteQuality
SIO_000300: 5.728e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.99e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

GenotypeQuality
all individuals: 24858
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 109
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variant carriers: 5

GenotypeQuality
all individuals: 22743
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1580
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1076
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1236
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5066
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.545117428924598e-4
allele num: 12944
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.829e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.14e-2

QD
type: SiteQuality
SIO_000300: 1.192e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.77e-1

MQ
type: SiteQuality
SIO_000300: 5.261e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.86981e5

GenotypeQuality
all individuals: 612
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variant carriers: 0

GenotypeQuality
all individuals: 1495
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GenotypeQuality
all individuals: 16
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variant carriers: 0

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

GenotypeQuality
all individuals: 105
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.682416731216112e-5
allele num: 10328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1244
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.328830926874709e-4
allele num: 4294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 970
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1812
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.186e-1

QD
type: SiteQuality
SIO_000300: 1.586e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.736e0

MQ
type: SiteQuality
SIO_000300: 5.728e1

DP
type: SiteQuality
SIO_000300: 3.52522e5

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 956
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 2.63915547024952e-3
allele num: 4168
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1812
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 8.090614886731392e-4
allele num: 1236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.708737864077671e-5
allele num: 10300
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 5.874e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

MQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

DP
type: SiteQuality
SIO_000300: 3.49052e5

MQ
type: SiteQuality
SIO_000300: 5.682e1

VQSLOD
type: SiteQuality
SIO_000300: -1.047e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.85e-2

QD
type: SiteQuality
SIO_000300: 1.431e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4176
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1808
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.147e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.88e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 5.682e1

DP
type: SiteQuality
SIO_000300: 3.47115e5

QD
type: SiteQuality
SIO_000300: 1.708e1

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

East Asian
type: Population
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allele frequency: 0.0e0
allele num: 1026
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8616
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South Asian
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allele frequency: 2.770083102493075e-4
allele num: 3610
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.76e-1

MQ
type: SiteQuality
SIO_000300: 5.381e1

FS
type: SiteQuality
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VQSLOD
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DP
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 16
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
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South Asian
type: Population
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allele frequency: 8.880994671403197e-4
allele num: 1126
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.01546e5

MQ
type: SiteQuality
SIO_000300: 5.203e1

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: 9.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.599999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

QD
type: SiteQuality
SIO_000300: 1.879e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.98e-1

GenotypeQuality
all individuals: 737
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4900
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2994
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.76e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.454e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e0

DP
type: SiteQuality
SIO_000300: 1.89996e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

QD
type: SiteQuality
SIO_000300: 6.34e0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

QD
type: SiteQuality
SIO_000300: 1.314e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.65124e5

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.61e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 5.616e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 250
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 27
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2318
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.54e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.64836e5

ClippingRankSum
type: SiteQuality
SIO_000300: 9.56e-1

QD
type: SiteQuality
SIO_000300: 1.312e1

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.527e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.517e0

GenotypeQuality
all individuals: 34
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 103
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.496402877697842e-4
allele num: 2224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

DP
type: SiteQuality
SIO_000300: 1.59713e5

QD
type: SiteQuality
SIO_000300: 1.341e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.760000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.442e0

FS
type: SiteQuality
SIO_000300: 3.522e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

GenotypeQuality
all individuals: 20397
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 103
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 151
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GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1970
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.072e-1

MQ
type: SiteQuality
SIO_000300: 5.443e1

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

DP
type: SiteQuality
SIO_000300: 1.56376e5

QD
type: SiteQuality
SIO_000300: 6.32e0

GenotypeQuality
all individuals: 886
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1728
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 648
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 203
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1351
bin: 3.25e1
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GenotypeQuality
all individuals: 26741
bin: 9.75e1
variant carriers: 36

GenotypeQuality
all individuals: 2467
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GenotypeQuality
all individuals: 6157
bin: 6.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 8
allele frequency: 6.942034015966678e-4
allele num: 11524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 4.258814224439509e-4
allele num: 65746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

FS
type: SiteQuality
SIO_000300: 9.93e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 2.300229e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.366e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

QD
type: SiteQuality
SIO_000300: 1.273e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 28097
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3524
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.388888888888889e-4
allele num: 14400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520588771972508e-5
allele num: 65764
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.736111111111111e-4
allele num: 11520
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.267e1

DP
type: SiteQuality
SIO_000300: 2.305072e6

QD
type: SiteQuality
SIO_000300: 6.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: -2.973e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.65e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

GenotypeQuality
all individuals: 565
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 86
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variant carriers: 3

GenotypeQuality
all individuals: 169
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variant carriers: 1

GenotypeQuality
all individuals: 3524
bin: 7.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1153
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3684
bin: 6.75e1
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GenotypeQuality
all individuals: 883
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variant carriers: 4

GenotypeQuality
all individuals: 355
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GenotypeQuality
all individuals: 3630
bin: 8.25e1
variant carriers: 3

East Asian
type: Population
allele count: 18
allele frequency: 2.090592334494774e-3
allele num: 8610
num of homozygotes: 0

Latino
type: Population
allele count: 46
allele frequency: 3.993055555555555e-3
allele num: 11520
num of homozygotes: 0

African
type: Population
allele count: 1038
allele frequency: 1.006399069226294e-1
allele num: 10314
num of homozygotes: 46

European (Non-Finnish)
type: Population
allele count: 60
allele frequency: 9.123532631835047e-4
allele num: 65764
num of homozygotes: 0

South Asian
type: Population
allele count: 394
allele frequency: 2.736111111111111e-2
allele num: 14400
num of homozygotes: 12

Other
type: Population
allele count: 6
allele frequency: 6.818181818181818e-3
allele num: 880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.524855138761818e-4
allele num: 6558
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 2.305072e6

MQRankSum
type: SiteQuality
SIO_000300: -2.973e0

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.65e-2

MQ
type: SiteQuality
SIO_000300: 5.267e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

QD
type: SiteQuality
SIO_000300: 6.89e0

GenotypeQuality
all individuals: 3517
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
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variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 2.75e1
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GenotypeQuality
all individuals: 675
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GenotypeQuality
all individuals: 26621
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GenotypeQuality
all individuals: 69
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GenotypeQuality
all individuals: 1191
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GenotypeQuality
all individuals: 512
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GenotypeQuality
all individuals: 2446
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GenotypeQuality
all individuals: 2269
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GenotypeQuality
all individuals: 133
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GenotypeQuality
all individuals: 3604
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GenotypeQuality
all individuals: 1063
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GenotypeQuality
all individuals: 3668
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65702
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.230657989877079e-5
allele num: 13830
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.015e1

MQRankSum
type: SiteQuality
SIO_000300: 7.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

DP
type: SiteQuality
SIO_000300: 2.253912e6

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.37e-2

QD
type: SiteQuality
SIO_000300: 1.576e1

GenotypeQuality
all individuals: 3738
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1720
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3636
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14644
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.555670290955476e-5
allele num: 65852
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -4.211e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

QD
type: SiteQuality
SIO_000300: 1.754e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.537e0

DP
type: SiteQuality
SIO_000300: 2.329685e6

GenotypeQuality
all individuals: 262
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 43

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2588
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.598752598752599e-4
allele num: 11544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66212
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: 15494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
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: 41
allele frequency: 3.952188162714479e-3
allele num: 10374
num of homozygotes: 1

DP
type: SiteQuality
SIO_000300: 2.365497e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.34e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

QD
type: SiteQuality
SIO_000300: 1.486e1

FS
type: SiteQuality
SIO_000300: 5.299e0

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3752
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2606
bin: 7.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66542
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e0

QD
type: SiteQuality
SIO_000300: 1.692e1

MQRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.272e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 2.384078e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e0

GenotypeQuality
all individuals: 299
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 3752
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.160670280926565e-5
allele num: 16232
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.507753335737469e-5
allele num: 66552
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.384712e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.58e0

MQRankSum
type: SiteQuality
SIO_000300: 5.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.296e1

GenotypeQuality
all individuals: 27071
bin: 9.75e1
variant carriers: 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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 41
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GenotypeQuality
all individuals: 4491
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.111722283339445e-5
allele num: 16362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66590
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: 11564
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

DP
type: SiteQuality
SIO_000300: 2.387732e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.885e1

MQRankSum
type: SiteQuality
SIO_000300: 8.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 1.223e1

VQSLOD
type: SiteQuality
SIO_000300: -3.614e-1

GenotypeQuality
all individuals: 4495
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 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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variant carriers: 0

GenotypeQuality
all individuals: 3756
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501185936890143e-5
allele num: 66614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.0e-1

DP
type: SiteQuality
SIO_000300: 2.38906e6

QD
type: SiteQuality
SIO_000300: 1.224e1

FS
type: SiteQuality
SIO_000300: 9.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 2
allele frequency: 2.999580058791769e-5
allele num: 66676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.492e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-2

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

FS
type: SiteQuality
SIO_000300: 1.733e0

VQSLOD
type: SiteQuality
SIO_000300: 8.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.35e0

DP
type: SiteQuality
SIO_000300: 2.392383e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.281e0

GenotypeQuality
all individuals: 3930
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
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: 66680
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 11570
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.689e0

QD
type: SiteQuality
SIO_000300: 1.374e1

MQ
type: SiteQuality
SIO_000300: 5.991e1

FS
type: SiteQuality
SIO_000300: 5.194e0

DP
type: SiteQuality
SIO_000300: 2.392667e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQRankSum
type: SiteQuality
SIO_000300: -1.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

European (Finnish)
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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: 11570
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: 8654
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: 66680
num of homozygotes: 0

African
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allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.374e1

BaseQRankSum
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SIO_000300: -4.689e0

DP
type: SiteQuality
SIO_000300: 2.392667e6

MQRankSum
type: SiteQuality
SIO_000300: -1.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 5.194e0

MQ
type: SiteQuality
SIO_000300: 5.991e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.54e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
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)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.23e1

MQRankSum
type: SiteQuality
SIO_000300: -1.493e0

FS
type: SiteQuality
SIO_000300: 2.472e0

DP
type: SiteQuality
SIO_000300: 2.393336e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.36e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 205

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

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

South Asian
type: Population
allele count: 203
allele frequency: 1.229557843731072e-2
allele num: 16510
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

African
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allele count: 2
allele frequency: 1.923446816695518e-4
allele num: 10398
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.368e0

QD
type: SiteQuality
SIO_000300: 1.386e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.76e-2

DP
type: SiteQuality
SIO_000300: 2.411761e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 17

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 18
allele frequency: 1.090248334342823e-3
allele num: 16510
num of homozygotes: 1

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: 10398
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.562e1

VQSLOD
type: SiteQuality
SIO_000300: 8.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

DP
type: SiteQuality
SIO_000300: 2.399076e6

MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.11e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

FS
type: SiteQuality
SIO_000300: 2.838e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

Other
type: Population
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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
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num of homozygotes: 0

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

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

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

DP
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.76e-1

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.53e-1

GenotypeQuality
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variant carriers: 0

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

South Asian
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num of homozygotes: 0

QD
type: SiteQuality
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DP
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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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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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6614
num of homozygotes: 0

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

East Asian
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South Asian
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allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 0

African
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num of homozygotes: 0

Other
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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

FS
type: SiteQuality
SIO_000300: 4.237e0

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
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BaseQRankSum
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MQ
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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FS
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DP
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
type: Population
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.199004825994425e-4
allele num: 66722
num of homozygotes: 0

FS
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ReadPosRankSum
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DP
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VQSLOD
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QD
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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Latino
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allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66706
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FS
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VQSLOD
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MQ
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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MQRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10378
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: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.396687e6

MQRankSum
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ClippingRankSum
type: SiteQuality
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MQ
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QD
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: 1.35e0

ReadPosRankSum
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BaseQRankSum
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SIO_000300: 1.65e0

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

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

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

European (Non-Finnish)
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allele num: 66646
num of homozygotes: 0

Other
type: Population
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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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num of homozygotes: 0

African
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.12e-1

VQSLOD
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InbreedingCoeff
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MQ
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QD
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BaseQRankSum
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MQRankSum
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FS
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DP
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ClippingRankSum
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GenotypeQuality
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variant carriers: 140

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

Other
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European (Finnish)
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Latino
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East Asian
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European (Non-Finnish)
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allele frequency: 3.451069831647811e-4
allele num: 66646
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South Asian
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allele frequency: 6.909928476178931e-3
allele num: 16498
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MQ
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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DP
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QD
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FS
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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African
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East Asian
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Other
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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MQ
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FS
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QD
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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Latino
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East Asian
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African
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South Asian
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European (Finnish)
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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QD
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MQRankSum
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MQ
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InbreedingCoeff
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FS
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10909
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503307276007216e-5
allele num: 66520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.388701e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.873e0

QD
type: SiteQuality
SIO_000300: 6.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.214e-1

MQ
type: SiteQuality
SIO_000300: 5.628e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.131e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.87e-1

GenotypeQuality
all individuals: 125
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2643
bin: 8.75e1
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GenotypeQuality
all individuals: 3886
bin: 7.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503714174009804e-5
allele num: 66502
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 8.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

QD
type: SiteQuality
SIO_000300: 9.0e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.005e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.394e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.655e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.131e0

VQSLOD
type: SiteQuality
SIO_000300: -1.096e0

DP
type: SiteQuality
SIO_000300: 2.388815e6

GenotypeQuality
all individuals: 760
bin: 2.75e1
variant carriers: 18

GenotypeQuality
all individuals: 596
bin: 5.75e1
variant carriers: 5

GenotypeQuality
all individuals: 7855
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2136
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variant carriers: 2

GenotypeQuality
all individuals: 512
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variant carriers: 19

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
variant carriers: 22

GenotypeQuality
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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variant carriers: 16

GenotypeQuality
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bin: 5.25e1
variant carriers: 3

GenotypeQuality
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bin: 4.25e1
variant carriers: 5

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 6

GenotypeQuality
all individuals: 24924
bin: 9.75e1
variant carriers: 46

GenotypeQuality
all individuals: 2354
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 13
allele frequency: 1.177109742846795e-3
allele num: 11044
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.170630816959669e-4
allele num: 9670
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.162790697674419e-3
allele num: 860
num of homozygotes: 0

South Asian
type: Population
allele count: 49
allele frequency: 3.513552273053205e-3
allele num: 13946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.535155050660117e-4
allele num: 6514
num of homozygotes: 0

East Asian
type: Population
allele count: 14
allele frequency: 1.724562700172456e-3
allele num: 8118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 4.299910816664543e-4
allele num: 62792
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

DP
type: SiteQuality
SIO_000300: 2.877061e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

QD
type: SiteQuality
SIO_000300: 3.25e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
all individuals: 2136
bin: 7.25e1
variant carriers: 13

GenotypeQuality
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variant carriers: 13

GenotypeQuality
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bin: 2.75e1
variant carriers: 27

GenotypeQuality
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variant carriers: 13

GenotypeQuality
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variant carriers: 5

GenotypeQuality
all individuals: 1160
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variant carriers: 28

GenotypeQuality
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variant carriers: 17

GenotypeQuality
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GenotypeQuality
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variant carriers: 161

GenotypeQuality
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variant carriers: 22

GenotypeQuality
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variant carriers: 24

GenotypeQuality
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bin: 7.75e1
variant carriers: 12

GenotypeQuality
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bin: 6.25e1
variant carriers: 14

GenotypeQuality
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bin: 8.25e1
variant carriers: 9

GenotypeQuality
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bin: 4.25e1
variant carriers: 14

GenotypeQuality
all individuals: 3421
bin: 6.75e1
variant carriers: 10

GenotypeQuality
all individuals: 699
bin: 4.75e1
variant carriers: 22

East Asian
type: Population
allele count: 20
allele frequency: 2.463661000246366e-3
allele num: 8118
num of homozygotes: 0

South Asian
type: Population
allele count: 38
allele frequency: 2.724795640326975e-3
allele num: 13946
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.813953488372093e-3
allele num: 860
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 8.149221296631656e-4
allele num: 11044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 289
allele frequency: 4.602497133392789e-3
allele num: 62792
num of homozygotes: 0

African
type: Population
allele count: 26
allele frequency: 2.688728024819028e-3
allele num: 9670
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

QD
type: SiteQuality
SIO_000300: 3.25e0

FS
type: SiteQuality
SIO_000300: 8.32e-1

DP
type: SiteQuality
SIO_000300: 2.877061e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

GenotypeQuality
all individuals: 123
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 3723
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variant carriers: 0

GenotypeQuality
all individuals: 243
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GenotypeQuality
all individuals: 2547
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variant carriers: 0

GenotypeQuality
all individuals: 11040
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27165
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 3660
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variant carriers: 0

GenotypeQuality
all individuals: 2571
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variant carriers: 0

GenotypeQuality
all individuals: 3797
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
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: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508204633204633e-5
allele num: 66304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 5.943e1

FS
type: SiteQuality
SIO_000300: 3.147e0

QD
type: SiteQuality
SIO_000300: 1.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.331e-1

DP
type: SiteQuality
SIO_000300: 2.462163e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
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GenotypeQuality
all individuals: 2534
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variant carriers: 0

GenotypeQuality
all individuals: 57
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variant carriers: 0

GenotypeQuality
all individuals: 106
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GenotypeQuality
all individuals: 1056
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 152
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variant carriers: 0

GenotypeQuality
all individuals: 3790
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66254
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-2

QD
type: SiteQuality
SIO_000300: 2.13e0

VQSLOD
type: SiteQuality
SIO_000300: 6.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.641e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.458949e6

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 27166
bin: 9.75e1
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GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 296
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1071
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2564
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GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509206157561123e-5
allele num: 66260
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: 6614
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.69e-1

QD
type: SiteQuality
SIO_000300: 1.931e1

DP
type: SiteQuality
SIO_000300: 2.458494e6

MQRankSum
type: SiteQuality
SIO_000300: -9.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
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GenotypeQuality
all individuals: 200
bin: 3.75e1
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GenotypeQuality
all individuals: 1278
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3783
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GenotypeQuality
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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: 41
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variant carriers: 0

GenotypeQuality
all individuals: 2518
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GenotypeQuality
all individuals: 4293
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
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: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.022426403917065e-5
allele num: 66172
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: 11560
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-2

MQ
type: SiteQuality
SIO_000300: 5.949e1

FS
type: SiteQuality
SIO_000300: 1.939e0

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.959e0

DP
type: SiteQuality
SIO_000300: 2.449549e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2500
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 9968
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GenotypeQuality
all individuals: 89
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GenotypeQuality
all individuals: 142
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GenotypeQuality
all individuals: 443
bin: 2.75e1
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GenotypeQuality
all individuals: 3653
bin: 9.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3778
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4237
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.798157946306095e-5
allele num: 10206
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: 66132
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: 16302
num of homozygotes: 0

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