3-157823753-CCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823753
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823750
    reference: chr 3
allele count: 3
allele frequency: 2.590852563216803e-5
allele num: 115792
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-402_-400delAAG
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.194_196delAAG
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.58_60delAAG
  hgvsp: ENSP00000419362.1:p.Lys20del
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000398704
  ensembl transcript: ENST00000425436
  gene symbol: SHOX2
  hgvsc: ENST00000425436.3:c.58_60delAAG
  hgvsp: ENSP00000398704.3:p.Lys20del
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-43_-41delTCT
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.58_60delAAG
  hgvsp: ENSP00000374240.4:p.Lys20del
  variant of: http://identifiers.org/hgnc/10854
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 45349
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6291
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys20del
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: CCTT
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

3-157823753-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823753
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823753
    reference: chr 3
allele count: 9
allele frequency: 7.772557689650407e-5
allele num: 115792
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-399G>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.61G>A
  hgvsp: ENSP00000374240.4:p.Glu21Lys
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.61G>A
  hgvsp: ENSP00000419362.1:p.Glu21Lys
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000398704
  ensembl transcript: ENST00000425436
  gene symbol: SHOX2
  hgvsc: ENST00000425436.3:c.61G>A
  hgvsp: ENSP00000398704.3:p.Glu21Lys
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-49C>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.197G>A
  variant of: http://identifiers.org/hgnc/10854
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu21Lys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

3-157823759-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823759
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823756
    reference: chr 3
allele count: 1
allele frequency: 8.616381464440194e-6
allele num: 116058
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.52_54delGAG
  hgvsp: ENSP00000374240.4:p.Glu18del
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.188_190delGAG
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-408_-406delGAG
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.52_54delGAG
  hgvsp: ENSP00000419362.1:p.Glu18del
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000398704
  ensembl transcript: ENST00000425436
  gene symbol: SHOX2
  hgvsc: ENST00000425436.3:c.52_54delGAG
  hgvsp: ENSP00000398704.3:p.Glu18del
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-40_-38delCCT
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43331
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6311
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu18del
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: TCTC
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

3-157823775-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823775
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823775
    reference: chr 3
allele count: 3
allele frequency: 2.57440016476161e-5
allele num: 116532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-27G>A
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000398704
  ensembl transcript: ENST00000425436
  gene symbol: SHOX2
  hgvsc: ENST00000425436.3:c.39C>T
  hgvsp: ENST00000425436.3:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.175C>T
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.39C>T
  hgvsp: ENST00000483851.2:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.39C>T
  hgvsp: ENST00000389589.4:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-421C>T
  variant of: http://identifiers.org/hgnc/10854
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6313
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp13Asp
num of homozygotes: 1
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-157823775-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823775
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823775
    reference: chr 3
allele count: 1
allele frequency: 8.581333882538702e-6
allele num: 116532
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.39C>G
  hgvsp: ENSP00000419362.1:p.Asp13Glu
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-421C>G
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.39C>G
  hgvsp: ENSP00000374240.4:p.Asp13Glu
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.175C>G
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000398704
  ensembl transcript: ENST00000425436
  gene symbol: SHOX2
  hgvsc: ENST00000425436.3:c.39C>G
  hgvsp: ENSP00000398704.3:p.Asp13Glu
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-27G>C
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6313
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp13Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/3-157823791-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823791
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823790
    reference: chr 3
allele count: 1
allele frequency: 8.568833439015613e-6
allele num: 116702
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.22delG
  hgvsp: ENSP00000374240.4:p.Val8SerfsTer9
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.158delG
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000398704
  ensembl transcript: ENST00000425436
  gene symbol: SHOX2
  hgvsc: ENST00000425436.3:c.22delG
  hgvsp: ENSP00000398704.3:p.Val8SerfsTer9
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-438delG
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.22delG
  hgvsp: ENSP00000419362.1:p.Val8SerfsTer9
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-10delC
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val8SerfsTer9
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: AC
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

3-157823793-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823793
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823793
    reference: chr 3
allele count: 1
allele frequency: 8.56956775100264e-6
allele num: 116692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-9G>A
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-439C>T
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.157C>T
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000398704
  ensembl transcript: ENST00000425436
  gene symbol: SHOX2
  hgvsc: ENST00000425436.3:c.21C>T
  hgvsp: ENST00000425436.3:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.21C>T
  hgvsp: ENST00000389589.4:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.21C>T
  hgvsp: ENST00000483851.2:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10854
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45598
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe7Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

3-157823793-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823793
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823793
    reference: chr 3
allele count: 1
allele frequency: 8.56956775100264e-6
allele num: 116692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.157C>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000398704
  ensembl transcript: ENST00000425436
  gene symbol: SHOX2
  hgvsc: ENST00000425436.3:c.21C>A
  hgvsp: ENSP00000398704.3:p.Phe7Leu
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.21C>A
  hgvsp: ENSP00000419362.1:p.Phe7Leu
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.21C>A
  hgvsp: ENSP00000374240.4:p.Phe7Leu
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-9G>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-439C>A
  variant of: http://identifiers.org/hgnc/10854
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe7Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/3-157823796-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823796
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823796
    reference: chr 3
allele count: 1
allele frequency: 8.568099252861745e-6
allele num: 116712
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000398704
  ensembl transcript: ENST00000425436
  gene symbol: SHOX2
  hgvsc: ENST00000425436.3:c.18G>T
  hgvsp: ENST00000425436.3:c.18G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-442G>T
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-6C>A
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.18G>T
  hgvsp: ENST00000483851.2:c.18G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.18G>T
  hgvsp: ENST00000389589.4:c.18G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.154G>T
  variant of: http://identifiers.org/hgnc/10854
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala6Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-157823796-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823796
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823796
    reference: chr 3
allele count: 1
allele frequency: 8.568099252861745e-6
allele num: 116712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-442G>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000398704
  ensembl transcript: ENST00000425436
  gene symbol: SHOX2
  hgvsc: ENST00000425436.3:c.18G>A
  hgvsp: ENST00000425436.3:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-6C>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.154G>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.18G>A
  hgvsp: ENST00000483851.2:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.18G>A
  hgvsp: ENST00000389589.4:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10854
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6311
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala6Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-157823800-G-GTTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823800
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823803
    reference: chr 3
allele count: 1
allele frequency: 8.567952430728104e-6
allele num: 116714
alternate allele: GTTC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.13_14insGAA
  hgvsp: ENSP00000419362.1:p.Leu4_Thr5insArg
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.13_14insGAA
  hgvsp: ENSP00000374240.4:p.Leu4_Thr5insArg
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-447_-446insGAA
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-3+2_-3+3insTCT
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000398704
  ensembl transcript: ENST00000425436
  gene symbol: SHOX2
  hgvsc: ENST00000425436.3:c.13_14insGAA
  hgvsp: ENSP00000398704.3:p.Leu4_Thr5insArg
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.149_150insGAA
  variant of: http://identifiers.org/hgnc/10854
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.75e1
  variant carriers: 0
hgvs: c.-3+2_-3+3insTCT
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

3-157823813-TCGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823813
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823810
    reference: chr 3
allele count: 230
allele frequency: 1.972488079311173e-3
allele num: 116604
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.134_136delGCG
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-3+21_-3+23delCGC
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000398704
  ensembl transcript: ENST00000425436
  gene symbol: SHOX2
  hgvsc: ENST00000425436.3:c.-3_-1delGCG
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-462_-460delGCG
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.-3_-1delGCG
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.-3_-1delGCG
  variant of: http://identifiers.org/hgnc/10854
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9854
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 42774
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45032
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 5
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: TCGC
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

3-157823814-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823814
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823814
    reference: chr 3
allele count: 1
allele frequency: 8.611929244389328e-6
allele num: 116118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.-1G>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-3+15C>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000398704
  ensembl transcript: ENST00000425436
  gene symbol: SHOX2
  hgvsc: ENST00000425436.3:c.-1G>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.-1G>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-460G>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.136G>A
  variant of: http://identifiers.org/hgnc/10854
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
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: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-157823815-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823815
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823815
    reference: chr 3
allele count: 1
allele frequency: 8.605555746790128e-6
allele num: 116204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.-2C>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000398704
  ensembl transcript: ENST00000425436
  gene symbol: SHOX2
  hgvsc: ENST00000425436.3:c.-2C>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.135C>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-461C>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.-2C>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-3+16G>T
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45001
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

3-157823817-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823817
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823817
    reference: chr 3
allele count: 1
allele frequency: 8.608074373762589e-6
allele num: 116170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.133G>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-463G>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.-4G>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.-4G>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000398704
  ensembl transcript: ENST00000425436
  gene symbol: SHOX2
  hgvsc: ENST00000425436.3:c.-4G>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-3+18C>T
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP

3-157823822-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823822
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823822
    reference: chr 3
allele count: 1
allele frequency: 8.576476440419219e-6
allele num: 116598
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-468G>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.-9G>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.-9G>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-3+23C>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000398704
  ensembl transcript: ENST00000425436
  gene symbol: SHOX2
  hgvsc: ENST00000425436.3:c.-9G>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.128G>A
  variant of: http://identifiers.org/hgnc/10854
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-157823824-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823824
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823824
    reference: chr 3
allele count: 1
allele frequency: 8.576770674305711e-6
allele num: 116594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-3+25C>A
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000398704
  ensembl transcript: ENST00000425436
  gene symbol: SHOX2
  hgvsc: ENST00000425436.3:c.-11G>T
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.-11G>T
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-470G>T
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.-11G>T
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.126G>T
  variant of: http://identifiers.org/hgnc/10854
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6282
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

3-157823825-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823825
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823825
    reference: chr 3
allele count: 1
allele frequency: 8.576476440419219e-6
allele num: 116598
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000398704
  ensembl transcript: ENST00000425436
  gene symbol: SHOX2
  hgvsc: ENST00000425436.3:c.-12C>G
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-3+26G>C
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.125C>G
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-471C>G
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.-12C>G
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.-12C>G
  variant of: http://identifiers.org/hgnc/10854
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6279
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP

3-157823830-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823830
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823830
    reference: chr 3
allele count: 7
allele frequency: 6.00559378163661e-5
allele num: 116558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-3+31C>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000398704
  ensembl transcript: ENST00000425436
  gene symbol: SHOX2
  hgvsc: ENST00000425436.3:c.-17G>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.120G>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-476G>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.-17G>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.-17G>A
  variant of: http://identifiers.org/hgnc/10854
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44993
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6270
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-157823831-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823831
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823831
    reference: chr 3
allele count: 15
allele frequency: 1.287089632922037e-4
allele num: 116542
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000398704
  ensembl transcript: ENST00000425436
  gene symbol: SHOX2
  hgvsc: ENST00000425436.3:c.-18G>C
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-477G>C
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.-18G>C
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.-18G>C
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-3+32C>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.119G>C
  variant of: http://identifiers.org/hgnc/10854
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6263
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

3-157823831-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823831
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823831
    reference: chr 3
allele count: 2
allele frequency: 1.716119510562716e-5
allele num: 116542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.119G>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000398704
  ensembl transcript: ENST00000425436
  gene symbol: SHOX2
  hgvsc: ENST00000425436.3:c.-18G>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-477G>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-3+32C>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.-18G>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.-18G>A
  variant of: http://identifiers.org/hgnc/10854
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44989
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-157823834-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823834
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823834
    reference: chr 3
allele count: 1
allele frequency: 8.58236495648741e-6
allele num: 116518
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.-21C>T
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-480C>T
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.-21C>T
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.116C>T
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000398704
  ensembl transcript: ENST00000425436
  gene symbol: SHOX2
  hgvsc: ENST00000425436.3:c.-21C>T
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-3+35G>A
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44891
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/3-157823835-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823835
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823835
    reference: chr 3
allele count: 1
allele frequency: 8.582954252853832e-6
allele num: 116510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-3+36C>A
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.115G>T
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000398704
  ensembl transcript: ENST00000425436
  gene symbol: SHOX2
  hgvsc: ENST00000425436.3:c.-22G>T
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.-22G>T
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.-22G>T
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-481G>T
  variant of: http://identifiers.org/hgnc/10854
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1783
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

3-157823842-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823842
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823842
    reference: chr 3
allele count: 6
allele frequency: 5.15357658214801e-5
allele num: 116424
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.-29G>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.-29G>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-3+43C>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-488G>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.108G>A
  variant of: http://identifiers.org/hgnc/10854
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9815
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6153
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-157823856-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823856
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823856
    reference: chr 3
allele count: 1
allele frequency: 8.632000552448036e-6
allele num: 115848
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.-43C>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.-43C>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-3+57G>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.94C>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-502C>A
  variant of: http://identifiers.org/hgnc/10854
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5712
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/3-157823857-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823857
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823857
    reference: chr 3
allele count: 2
allele frequency: 1.727682659249149e-5
allele num: 115762
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.-44G>T
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.-44G>T
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-3+58C>A
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-503G>T
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.93G>T
  variant of: http://identifiers.org/hgnc/10854
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-157823860-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823860
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823860
    reference: chr 3
allele count: 17
allele frequency: 1.473698810638372e-4
allele num: 115356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-3+61C>A
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.-47G>T
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.90G>T
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-506G>T
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.-47G>T
  variant of: http://identifiers.org/hgnc/10854
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9370
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38176
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

3-157823861-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823861
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823861
    reference: chr 3
allele count: 2
allele frequency: 1.735207357279195e-5
allele num: 115260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.-48C>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.-48C>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-507C>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.89C>A
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-3+62G>T
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9790
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5476
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

3-157823861-GCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823861
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823859
    reference: chr 3
allele count: 2
allele frequency: 1.735207357279195e-5
allele num: 115260
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.-50_-49delAG
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-509_-508delAG
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.87_88delAG
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.-50_-49delAG
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-3+65_-3+66delCT
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5476
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: GCT
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

3-157823864-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157823864
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157823864
    reference: chr 3
allele count: 1
allele frequency: 8.730574471800245e-6
allele num: 114540
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000374240
  ensembl transcript: ENST00000389589
  gene symbol: SHOX2
  hgvsc: ENST00000389589.4:c.-51G>C
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168779
  ensembl transcript: ENST00000554685
  gene symbol: SHOX2
  hgvsc: ENST00000554685.1:n.86G>C
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000419362
  ensembl transcript: ENST00000483851
  gene symbol: SHOX2
  hgvsc: ENST00000483851.2:c.-51G>C
  variant of: http://identifiers.org/hgnc/10854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-3+65C>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168779
  ensembl protein: ENSP00000397099
  ensembl transcript: ENST00000441443
  gene symbol: SHOX2
  hgvsc: ENST00000441443.2:c.-510G>C
  variant of: http://identifiers.org/hgnc/10854
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11829
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3903
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4371
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26978
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5182
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2377
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

3-157839853-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157839853
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157839853
    reference: chr 3
allele count: 1
allele frequency: 1.092323152881549e-5
allele num: 91548
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.-2-39C>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.-2-39C>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.76-39C>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-2-39C>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.-2-39C>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.-2-39C>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.-2-39C>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.-2-39C>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.-2-39C>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.-2-39C>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.57-39C>G
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18456
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7755
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

3-157839856-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157839856
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157839856
    reference: chr 3
allele count: 4
allele frequency: 4.338583018786064e-5
allele num: 92196
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.-2-36T>C
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.-2-36T>C
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.-2-36T>C
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.-2-36T>C
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.-2-36T>C
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.76-36T>C
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.-2-36T>C
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-2-36T>C
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.-2-36T>C
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.-2-36T>C
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.57-36T>C
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12927
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17907
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14221
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

3-157839860-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157839860
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157839860
    reference: chr 3
allele count: 1
allele frequency: 1.081034333650437e-5
allele num: 92504
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.57-32A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.-2-32A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.-2-32A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.-2-32A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.76-32A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.-2-32A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.-2-32A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.-2-32A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-2-32A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.-2-32A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.-2-32A>G
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12984
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

3-157839882-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157839882
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157839882
    reference: chr 3
allele count: 2
allele frequency: 2.004490057729314e-5
allele num: 99776
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.-2-10A>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.-2-10A>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.76-10A>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.-2-10A>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.-2-10A>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.-2-10A>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.-2-10A>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.-2-10A>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-2-10A>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.57-10A>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.-2-10A>T
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3360
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP

3-157839888-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157839888
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157839888
    reference: chr 3
allele count: 1
allele frequency: 9.635953670334753e-6
allele num: 103778
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.57-4A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.-2-4A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.-2-4A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.-2-4A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.-2-4A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.-2-4A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.-2-4A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.76-4A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.-2-4A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.-2-4A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.-2-4A>G
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-2-4A>G
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

3-157839900-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157839900
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157839900
    reference: chr 3
allele count: 6
allele frequency: 5.512881767062369e-5
allele num: 108836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.84C>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.7C>T
  hgvsp: ENSP00000295930.3:p.Arg3Cys
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.7C>T
  hgvsp: ENSP00000420150.1:p.Arg3Cys
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.7C>T
  hgvsp: ENSP00000420018.1:p.Arg3Cys
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.7C>T
  hgvsp: ENSP00000417690.1:p.Arg3Cys
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.7C>T
  hgvsp: ENSP00000419794.1:p.Arg3Cys
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.7C>T
  hgvsp: ENSP00000419394.1:p.Arg3Cys
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.7C>T
  hgvsp: ENSP00000417816.2:p.Arg3Cys
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.7C>T
  hgvsp: ENSP00000417302.1:p.Arg3Cys
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.65C>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.7C>T
  hgvsp: ENSP00000308671.6:p.Arg3Cys
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7922
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36912
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg3Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

3-157839901-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157839901
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157839901
    reference: chr 3
allele count: 3
allele frequency: 2.740326646936315e-5
allele num: 109476
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.85G>A
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.8G>A
  hgvsp: ENSP00000417816.2:p.Arg3His
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.8G>A
  hgvsp: ENSP00000308671.6:p.Arg3His
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.8G>A
  hgvsp: ENSP00000420018.1:p.Arg3His
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.8G>A
  hgvsp: ENSP00000419794.1:p.Arg3His
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.8G>A
  hgvsp: ENSP00000295930.3:p.Arg3His
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.8G>A
  hgvsp: ENSP00000419394.1:p.Arg3His
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.8G>A
  hgvsp: ENSP00000417302.1:p.Arg3His
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.8G>A
  hgvsp: ENSP00000417690.1:p.Arg3His
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.66G>A
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.8G>A
  hgvsp: ENSP00000420150.1:p.Arg3His
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8087
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg3His
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum

3-157839903-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157839903
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157839903
    reference: chr 3
allele count: 1
allele frequency: 9.091404985726495e-6
allele num: 109994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.10C>T
  hgvsp: ENSP00000419794.1:p.Arg4Trp
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.10C>T
  hgvsp: ENSP00000308671.6:p.Arg4Trp
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.10C>T
  hgvsp: ENSP00000419394.1:p.Arg4Trp
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.87C>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.10C>T
  hgvsp: ENSP00000417816.2:p.Arg4Trp
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.10C>T
  hgvsp: ENSP00000420150.1:p.Arg4Trp
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.10C>T
  hgvsp: ENSP00000417302.1:p.Arg4Trp
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.10C>T
  hgvsp: ENSP00000420018.1:p.Arg4Trp
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.10C>T
  hgvsp: ENSP00000295930.3:p.Arg4Trp
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.10C>T
  hgvsp: ENSP00000417690.1:p.Arg4Trp
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.68C>T
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg4Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-157839904-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157839904
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157839904
    reference: chr 3
allele count: 2
allele frequency: 1.810839686362566e-5
allele num: 110446
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.11G>A
  hgvsp: ENSP00000419394.1:p.Arg4Gln
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.11G>A
  hgvsp: ENSP00000308671.6:p.Arg4Gln
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.11G>A
  hgvsp: ENSP00000417302.1:p.Arg4Gln
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.11G>A
  hgvsp: ENSP00000417690.1:p.Arg4Gln
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.11G>A
  hgvsp: ENSP00000420018.1:p.Arg4Gln
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.88G>A
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.11G>A
  hgvsp: ENSP00000419794.1:p.Arg4Gln
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.11G>A
  hgvsp: ENSP00000420150.1:p.Arg4Gln
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.69G>A
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.11G>A
  hgvsp: ENSP00000417816.2:p.Arg4Gln
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.11G>A
  hgvsp: ENSP00000295930.3:p.Arg4Gln
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg4Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

3-157839913-ATAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157839913
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157839910
    reference: chr 3
allele count: 1
allele frequency: 8.870595749210517e-6
allele num: 112732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.22_24delACT
  hgvsp: ENSP00000419794.1:p.Thr8del
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.22_24delACT
  hgvsp: ENSP00000420018.1:p.Thr8del
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.22_24delACT
  hgvsp: ENSP00000419394.1:p.Thr8del
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.22_24delACT
  hgvsp: ENSP00000417690.1:p.Thr8del
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.22_24delACT
  hgvsp: ENSP00000417816.2:p.Thr8del
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.80_82delACT
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.99_101delACT
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.22_24delACT
  hgvsp: ENSP00000417302.1:p.Thr8del
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.22_24delACT
  hgvsp: ENSP00000308671.6:p.Thr8del
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.22_24delACT
  hgvsp: ENSP00000295930.3:p.Thr8del
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.22_24delACT
  hgvsp: ENSP00000420150.1:p.Thr8del
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr8del
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: ATAC
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

3-157839924-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157839924
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157839924
    reference: chr 3
allele count: 1
allele frequency: 8.733624454148471e-6
allele num: 114500
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.31G>T
  hgvsp: ENSP00000420150.1:p.Glu11Ter
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.31G>T
  hgvsp: ENSP00000295930.3:p.Glu11Ter
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.31G>T
  hgvsp: ENSP00000417690.1:p.Glu11Ter
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.31G>T
  hgvsp: ENSP00000419394.1:p.Glu11Ter
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.31G>T
  hgvsp: ENSP00000420018.1:p.Glu11Ter
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.31G>T
  hgvsp: ENSP00000417302.1:p.Glu11Ter
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.31G>T
  hgvsp: ENSP00000417816.2:p.Glu11Ter
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.31G>T
  hgvsp: ENSP00000308671.6:p.Glu11Ter
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.31G>T
  hgvsp: ENSP00000419794.1:p.Glu11Ter
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.108G>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.89G>T
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37822
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu11Ter
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

3-157839928-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157839928
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157839928
    reference: chr 3
allele count: 1
allele frequency: 8.689305203155955e-6
allele num: 115084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.35G>A
  hgvsp: ENSP00000417302.1:p.Ser12Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.35G>A
  hgvsp: ENSP00000420018.1:p.Ser12Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.35G>A
  hgvsp: ENSP00000419394.1:p.Ser12Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.35G>A
  hgvsp: ENSP00000417816.2:p.Ser12Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.35G>A
  hgvsp: ENSP00000420150.1:p.Ser12Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.93G>A
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.35G>A
  hgvsp: ENSP00000419794.1:p.Ser12Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.35G>A
  hgvsp: ENSP00000295930.3:p.Ser12Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.35G>A
  hgvsp: ENSP00000417690.1:p.Ser12Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.35G>A
  hgvsp: ENSP00000308671.6:p.Ser12Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.112G>A
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser12Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

3-157839932-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157839932
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157839932
    reference: chr 3
allele count: 1
allele frequency: 8.646629543803825e-6
allele num: 115652
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.39A>G
  hgvsp: ENST00000480119.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.39A>G
  hgvsp: ENST00000476899.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.39A>G
  hgvsp: ENST00000295930.3:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.39A>G
  hgvsp: ENST00000464171.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.39A>G
  hgvsp: ENST00000480820.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.97A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.116A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.39A>G
  hgvsp: ENST00000471994.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.39A>G
  hgvsp: ENST00000312179.6:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.39A>G
  hgvsp: ENST00000475278.2:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.39A>G
  hgvsp: ENST00000494002.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg13Arg
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-157839933-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157839933
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157839933
    reference: chr 3
allele count: 6
allele frequency: 5.182242183451373e-5
allele num: 115780
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.40A>G
  hgvsp: ENSP00000419794.1:p.Ser14Gly
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.40A>G
  hgvsp: ENSP00000420018.1:p.Ser14Gly
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.98A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.40A>G
  hgvsp: ENSP00000417302.1:p.Ser14Gly
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.40A>G
  hgvsp: ENSP00000295930.3:p.Ser14Gly
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.117A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.40A>G
  hgvsp: ENSP00000308671.6:p.Ser14Gly
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.40A>G
  hgvsp: ENSP00000417816.2:p.Ser14Gly
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.40A>G
  hgvsp: ENSP00000420150.1:p.Ser14Gly
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.40A>G
  hgvsp: ENSP00000419394.1:p.Ser14Gly
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.40A>G
  hgvsp: ENSP00000417690.1:p.Ser14Gly
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11032
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38236
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser14Gly
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-157839934-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157839934
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157839934
    reference: chr 3
allele count: 1
allele frequency: 8.629467907008854e-6
allele num: 115882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.118G>A
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.41G>A
  hgvsp: ENSP00000308671.6:p.Ser14Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.41G>A
  hgvsp: ENSP00000417302.1:p.Ser14Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.41G>A
  hgvsp: ENSP00000417816.2:p.Ser14Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.41G>A
  hgvsp: ENSP00000417690.1:p.Ser14Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.41G>A
  hgvsp: ENSP00000419794.1:p.Ser14Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.41G>A
  hgvsp: ENSP00000419394.1:p.Ser14Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.41G>A
  hgvsp: ENSP00000420018.1:p.Ser14Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.99G>A
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.41G>A
  hgvsp: ENSP00000295930.3:p.Ser14Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.41G>A
  hgvsp: ENSP00000420150.1:p.Ser14Asn
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser14Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

3-157839934-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157839934
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157839934
    reference: chr 3
allele count: 1
allele frequency: 8.629467907008854e-6
allele num: 115882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.41G>T
  hgvsp: ENSP00000417690.1:p.Ser14Ile
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.41G>T
  hgvsp: ENSP00000308671.6:p.Ser14Ile
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.41G>T
  hgvsp: ENSP00000417816.2:p.Ser14Ile
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.41G>T
  hgvsp: ENSP00000417302.1:p.Ser14Ile
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.118G>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.41G>T
  hgvsp: ENSP00000295930.3:p.Ser14Ile
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.41G>T
  hgvsp: ENSP00000419394.1:p.Ser14Ile
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.99G>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.41G>T
  hgvsp: ENSP00000420150.1:p.Ser14Ile
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.41G>T
  hgvsp: ENSP00000420018.1:p.Ser14Ile
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.41G>T
  hgvsp: ENSP00000419794.1:p.Ser14Ile
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser14Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-157839936-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157839936
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157839936
    reference: chr 3
allele count: 1
allele frequency: 8.607037113544033e-6
allele num: 116184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.43A>G
  hgvsp: ENSP00000417816.2:p.Lys15Glu
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.43A>G
  hgvsp: ENSP00000295930.3:p.Lys15Glu
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.43A>G
  hgvsp: ENSP00000417302.1:p.Lys15Glu
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.43A>G
  hgvsp: ENSP00000308671.6:p.Lys15Glu
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.120A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.43A>G
  hgvsp: ENSP00000417690.1:p.Lys15Glu
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.43A>G
  hgvsp: ENSP00000420018.1:p.Lys15Glu
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.43A>G
  hgvsp: ENSP00000419794.1:p.Lys15Glu
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.43A>G
  hgvsp: ENSP00000419394.1:p.Lys15Glu
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.101A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.43A>G
  hgvsp: ENSP00000420150.1:p.Lys15Glu
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11333
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys15Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

3-157839937-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157839937
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157839937
    reference: chr 3
allele count: 5
allele frequency: 4.299595837991229e-5
allele num: 116290
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.44A>T
  hgvsp: ENSP00000295930.3:p.Lys15Met
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.44A>T
  hgvsp: ENSP00000419394.1:p.Lys15Met
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.44A>T
  hgvsp: ENSP00000417302.1:p.Lys15Met
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.121A>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.44A>T
  hgvsp: ENSP00000417690.1:p.Lys15Met
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.44A>T
  hgvsp: ENSP00000417816.2:p.Lys15Met
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.102A>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.44A>T
  hgvsp: ENSP00000420018.1:p.Lys15Met
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.44A>T
  hgvsp: ENSP00000420150.1:p.Lys15Met
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.44A>T
  hgvsp: ENSP00000308671.6:p.Lys15Met
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.44A>T
  hgvsp: ENSP00000419794.1:p.Lys15Met
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11396
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38253
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys15Met
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

3-157839938-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157839938
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157839938
    reference: chr 3
allele count: 3
allele frequency: 2.577718203845956e-5
allele num: 116382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.45G>A
  hgvsp: ENST00000475278.2:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.45G>A
  hgvsp: ENST00000480820.1:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.45G>A
  hgvsp: ENST00000464171.1:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.45G>A
  hgvsp: ENST00000480119.1:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.45G>A
  hgvsp: ENST00000476899.1:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.122G>A
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.45G>A
  hgvsp: ENST00000312179.6:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.45G>A
  hgvsp: ENST00000471994.1:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.45G>A
  hgvsp: ENST00000494002.1:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.45G>A
  hgvsp: ENST00000295930.3:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.103G>A
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11464
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys15Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

3-157839940-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157839940
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157839940
    reference: chr 3
allele count: 7
allele frequency: 6.006830624538761e-5
allele num: 116534
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.47G>C
  hgvsp: ENSP00000420018.1:p.Arg16Thr
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.124G>C
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.47G>C
  hgvsp: ENSP00000419794.1:p.Arg16Thr
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.47G>C
  hgvsp: ENSP00000419394.1:p.Arg16Thr
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.47G>C
  hgvsp: ENSP00000417302.1:p.Arg16Thr
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.47G>C
  hgvsp: ENSP00000420150.1:p.Arg16Thr
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.105G>C
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.47G>C
  hgvsp: ENSP00000417816.2:p.Arg16Thr
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.47G>C
  hgvsp: ENSP00000308671.6:p.Arg16Thr
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.47G>C
  hgvsp: ENSP00000417690.1:p.Arg16Thr
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.47G>C
  hgvsp: ENSP00000295930.3:p.Arg16Thr
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg16Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/3-157839949-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157839949
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157839949
    reference: chr 3
allele count: 1
allele frequency: 8.530967411704487e-6
allele num: 117220
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.56A>C
  hgvsp: ENSP00000417816.2:p.Lys19Thr
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419054
  ensembl transcript: ENST00000477788
  gene symbol: RSRC1
  hgvsc: ENST00000477788.1:c.7A>C
  hgvsp: ENSP00000419054.1:p.Lys3Thr
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.56A>C
  hgvsp: ENSP00000419394.1:p.Lys19Thr
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.56A>C
  hgvsp: ENSP00000417690.1:p.Lys19Thr
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.56A>C
  hgvsp: ENSP00000420150.1:p.Lys19Thr
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.114A>C
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.56A>C
  hgvsp: ENSP00000308671.6:p.Lys19Thr
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.56A>C
  hgvsp: ENSP00000417302.1:p.Lys19Thr
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.56A>C
  hgvsp: ENSP00000419794.1:p.Lys19Thr
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.56A>C
  hgvsp: ENSP00000420018.1:p.Lys19Thr
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.56A>C
  hgvsp: ENSP00000295930.3:p.Lys19Thr
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.133A>C
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12189
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys19Thr
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

3-157839955-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157839955
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157839955
    reference: chr 3
allele count: 172
allele frequency: 1.461864046643662e-3
allele num: 117658
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.62G>A
  hgvsp: ENSP00000417816.2:p.Arg21His
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.62G>A
  hgvsp: ENSP00000419794.1:p.Arg21His
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.62G>A
  hgvsp: ENSP00000308671.6:p.Arg21His
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.62G>A
  hgvsp: ENSP00000420018.1:p.Arg21His
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.62G>A
  hgvsp: ENSP00000417302.1:p.Arg21His
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.62G>A
  hgvsp: ENSP00000420150.1:p.Arg21His
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.120G>A
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.62G>A
  hgvsp: ENSP00000419394.1:p.Arg21His
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419054
  ensembl transcript: ENST00000477788
  gene symbol: RSRC1
  hgvsc: ENST00000477788.1:c.13G>A
  hgvsp: ENSP00000419054.1:p.Arg5His
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.62G>A
  hgvsp: ENSP00000295930.3:p.Arg21His
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.62G>A
  hgvsp: ENSP00000417690.1:p.Arg21His
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.139G>A
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37437
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 3.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg21His
num of homozygotes: 1
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

3-157839960-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157839960
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157839960
    reference: chr 3
allele count: 1
allele frequency: 8.477162524159914e-6
allele num: 117964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.67C>T
  hgvsp: ENSP00000419394.1:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.67C>T
  hgvsp: ENSP00000420018.1:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.67C>T
  hgvsp: ENSP00000419794.1:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.67C>T
  hgvsp: ENSP00000417690.1:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.67C>T
  hgvsp: ENSP00000308671.6:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419054
  ensembl transcript: ENST00000477788
  gene symbol: RSRC1
  hgvsc: ENST00000477788.1:c.18C>T
  hgvsp: ENSP00000419054.1:p.Arg7Trp
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.67C>T
  hgvsp: ENSP00000295930.3:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.67C>T
  hgvsp: ENSP00000417302.1:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.125C>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.67C>T
  hgvsp: ENSP00000417816.2:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.144C>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.67C>T
  hgvsp: ENSP00000420150.1:p.Arg23Trp
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg23Trp
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

3-157839961-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157839961
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157839961
    reference: chr 3
allele count: 5
allele frequency: 4.235062933035185e-5
allele num: 118062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.68G>A
  hgvsp: ENSP00000308671.6:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.68G>A
  hgvsp: ENSP00000419394.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.68G>A
  hgvsp: ENSP00000420018.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.145G>A
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.68G>A
  hgvsp: ENSP00000417690.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.68G>A
  hgvsp: ENSP00000417302.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.68G>A
  hgvsp: ENSP00000419794.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.126G>A
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419054
  ensembl transcript: ENST00000477788
  gene symbol: RSRC1
  hgvsc: ENST00000477788.1:c.19G>A
  hgvsp: ENSP00000419054.1:p.Arg7Gln
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.68G>A
  hgvsp: ENSP00000295930.3:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.68G>A
  hgvsp: ENSP00000417816.2:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.68G>A
  hgvsp: ENSP00000420150.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37432
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg23Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-157839961-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157839961
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157839961
    reference: chr 3
allele count: 1
allele frequency: 8.470125866070369e-6
allele num: 118062
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.68G>T
  hgvsp: ENSP00000420018.1:p.Arg23Leu
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.145G>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.68G>T
  hgvsp: ENSP00000295930.3:p.Arg23Leu
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.68G>T
  hgvsp: ENSP00000420150.1:p.Arg23Leu
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.68G>T
  hgvsp: ENSP00000419794.1:p.Arg23Leu
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419054
  ensembl transcript: ENST00000477788
  gene symbol: RSRC1
  hgvsc: ENST00000477788.1:c.19G>T
  hgvsp: ENSP00000419054.1:p.Arg7Leu
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.68G>T
  hgvsp: ENSP00000308671.6:p.Arg23Leu
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.68G>T
  hgvsp: ENSP00000417816.2:p.Arg23Leu
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.68G>T
  hgvsp: ENSP00000417302.1:p.Arg23Leu
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.68G>T
  hgvsp: ENSP00000417690.1:p.Arg23Leu
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.68G>T
  hgvsp: ENSP00000419394.1:p.Arg23Leu
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.126G>T
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg23Leu
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ

3-157839971-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157839971
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157839971
    reference: chr 3
allele count: 1
allele frequency: 8.430708010858751e-6
allele num: 118614
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.155G>A
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.78G>A
  hgvsp: ENST00000295930.3:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.78G>A
  hgvsp: ENST00000494002.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419054
  ensembl transcript: ENST00000477788
  gene symbol: RSRC1
  hgvsc: ENST00000477788.1:c.29G>A
  hgvsp: ENST00000477788.1:c.29G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.78G>A
  hgvsp: ENST00000480119.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.78G>A
  hgvsp: ENST00000480820.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.78G>A
  hgvsp: ENST00000471994.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.78G>A
  hgvsp: ENST00000476899.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.78G>A
  hgvsp: ENST00000475278.2:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.136G>A
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.78G>A
  hgvsp: ENST00000464171.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.78G>A
  hgvsp: ENST00000312179.6:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13608
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser26Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS

3-157839987-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157839987
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157839987
    reference: chr 3
allele count: 1
allele frequency: 8.388558006878617e-6
allele num: 119210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.94A>G
  hgvsp: ENSP00000419394.1:p.Ser32Gly
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.94A>G
  hgvsp: ENSP00000420150.1:p.Ser32Gly
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.94A>G
  hgvsp: ENSP00000417816.2:p.Ser32Gly
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419054
  ensembl transcript: ENST00000477788
  gene symbol: RSRC1
  hgvsc: ENST00000477788.1:c.45A>G
  hgvsp: ENSP00000419054.1:p.Ser16Gly
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.94A>G
  hgvsp: ENSP00000419794.1:p.Ser32Gly
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.94A>G
  hgvsp: ENSP00000420018.1:p.Ser32Gly
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.94A>G
  hgvsp: ENSP00000308671.6:p.Ser32Gly
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.94A>G
  hgvsp: ENSP00000417690.1:p.Ser32Gly
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.94A>G
  hgvsp: ENSP00000417302.1:p.Ser32Gly
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.94A>G
  hgvsp: ENSP00000295930.3:p.Ser32Gly
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.171A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.152A>G
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser32Gly
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

3-157839995-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157839995
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157839995
    reference: chr 3
allele count: 1
allele frequency: 8.375630266177531e-6
allele num: 119394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.102A>G
  hgvsp: ENST00000464171.1:c.102A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.102A>G
  hgvsp: ENST00000480119.1:c.102A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.179A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.102A>G
  hgvsp: ENST00000471994.1:c.102A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419054
  ensembl transcript: ENST00000477788
  gene symbol: RSRC1
  hgvsc: ENST00000477788.1:c.53A>G
  hgvsp: ENST00000477788.1:c.53A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.102A>G
  hgvsp: ENST00000475278.2:c.102A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.160A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.102A>G
  hgvsp: ENST00000494002.1:c.102A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.102A>G
  hgvsp: ENST00000295930.3:c.102A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.102A>G
  hgvsp: ENST00000476899.1:c.102A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.102A>G
  hgvsp: ENST00000312179.6:c.102A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.102A>G
  hgvsp: ENST00000480820.1:c.102A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr34Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum

3-157840003-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157840003
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157840003
    reference: chr 3
allele count: 2
allele frequency: 1.674368762976358e-5
allele num: 119448
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.110G>A
  hgvsp: ENSP00000417302.1:p.Arg37Gln
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.110G>A
  hgvsp: ENSP00000308671.6:p.Arg37Gln
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.110G>A
  hgvsp: ENSP00000417690.1:p.Arg37Gln
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.110G>A
  hgvsp: ENSP00000420150.1:p.Arg37Gln
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.110G>A
  hgvsp: ENSP00000420018.1:p.Arg37Gln
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.110G>A
  hgvsp: ENSP00000417816.2:p.Arg37Gln
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.187G>A
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.110G>A
  hgvsp: ENSP00000419794.1:p.Arg37Gln
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.110G>A
  hgvsp: ENSP00000295930.3:p.Arg37Gln
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.110G>A
  hgvsp: ENSP00000419394.1:p.Arg37Gln
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419054
  ensembl transcript: ENST00000477788
  gene symbol: RSRC1
  hgvsc: ENST00000477788.1:c.61G>A
  hgvsp: ENSP00000419054.1:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.168G>A
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37577
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg37Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

3-157840006-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157840006
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157840006
    reference: chr 3
allele count: 1
allele frequency: 8.364141253617491e-6
allele num: 119558
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.113A>G
  hgvsp: ENSP00000417690.1:p.Lys38Arg
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.113A>G
  hgvsp: ENSP00000417302.1:p.Lys38Arg
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.113A>G
  hgvsp: ENSP00000417816.2:p.Lys38Arg
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.113A>G
  hgvsp: ENSP00000420018.1:p.Lys38Arg
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.113A>G
  hgvsp: ENSP00000308671.6:p.Lys38Arg
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.113A>G
  hgvsp: ENSP00000419794.1:p.Lys38Arg
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.113A>G
  hgvsp: ENSP00000295930.3:p.Lys38Arg
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.113A>G
  hgvsp: ENSP00000420150.1:p.Lys38Arg
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.113A>G
  hgvsp: ENSP00000419394.1:p.Lys38Arg
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419054
  ensembl transcript: ENST00000477788
  gene symbol: RSRC1
  hgvsc: ENST00000477788.1:c.64A>G
  hgvsp: ENSP00000419054.1:p.Lys22Arg
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.171A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.190A>G
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys38Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

3-157840007-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157840007
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157840007
    reference: chr 3
allele count: 5
allele frequency: 4.182140586837967e-5
allele num: 119556
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.172G>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.114G>T
  hgvsp: ENSP00000417816.2:p.Lys38Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.114G>T
  hgvsp: ENSP00000308671.6:p.Lys38Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.114G>T
  hgvsp: ENSP00000420018.1:p.Lys38Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.114G>T
  hgvsp: ENSP00000417302.1:p.Lys38Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.114G>T
  hgvsp: ENSP00000417690.1:p.Lys38Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.191G>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419054
  ensembl transcript: ENST00000477788
  gene symbol: RSRC1
  hgvsc: ENST00000477788.1:c.65G>T
  hgvsp: ENSP00000419054.1:p.Lys22Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.114G>T
  hgvsp: ENSP00000295930.3:p.Lys38Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.114G>T
  hgvsp: ENSP00000419794.1:p.Lys38Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.114G>T
  hgvsp: ENSP00000420150.1:p.Lys38Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.114G>T
  hgvsp: ENSP00000419394.1:p.Lys38Asn
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14646
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37716
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys38Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

3-157840010-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157840010
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157840010
    reference: chr 3
allele count: 1
allele frequency: 8.360924383799873e-6
allele num: 119604
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.117A>T
  hgvsp: ENSP00000419794.1:p.Lys39Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419054
  ensembl transcript: ENST00000477788
  gene symbol: RSRC1
  hgvsc: ENST00000477788.1:c.68A>T
  hgvsp: ENSP00000419054.1:p.Lys23Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.117A>T
  hgvsp: ENSP00000419394.1:p.Lys39Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.117A>T
  hgvsp: ENSP00000420150.1:p.Lys39Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.117A>T
  hgvsp: ENSP00000295930.3:p.Lys39Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.117A>T
  hgvsp: ENSP00000417816.2:p.Lys39Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.117A>T
  hgvsp: ENSP00000308671.6:p.Lys39Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.117A>T
  hgvsp: ENSP00000420018.1:p.Lys39Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.117A>T
  hgvsp: ENSP00000417302.1:p.Lys39Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.194A>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.117A>T
  hgvsp: ENSP00000417690.1:p.Lys39Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.175A>T
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys39Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

3-157840019-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157840019
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157840019
    reference: chr 3
allele count: 1
allele frequency: 8.358408559010364e-6
allele num: 119640
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.126G>C
  hgvsp: ENSP00000419394.1:p.Arg42Ser
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.126G>C
  hgvsp: ENSP00000420018.1:p.Arg42Ser
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.184G>C
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.126G>C
  hgvsp: ENSP00000308671.6:p.Arg42Ser
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.126G>C
  hgvsp: ENSP00000417816.2:p.Arg42Ser
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.126G>C
  hgvsp: ENSP00000419794.1:p.Arg42Ser
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.126G>C
  hgvsp: ENSP00000295930.3:p.Arg42Ser
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.126G>C
  hgvsp: ENSP00000417302.1:p.Arg42Ser
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.126G>C
  hgvsp: ENSP00000420150.1:p.Arg42Ser
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.203G>C
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419054
  ensembl transcript: ENST00000477788
  gene symbol: RSRC1
  hgvsc: ENST00000477788.1:c.77G>C
  hgvsp: ENSP00000419054.1:p.Arg26Ser
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.126G>C
  hgvsp: ENSP00000417690.1:p.Arg42Ser
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg42Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

3-157840037-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157840037
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157840037
    reference: chr 3
allele count: 17
allele frequency: 1.423809444044289e-4
allele num: 119398
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.144A>G
  hgvsp: ENST00000295930.3:c.144A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.144A>G
  hgvsp: ENST00000475278.2:c.144A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.144A>G
  hgvsp: ENST00000464171.1:c.144A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.202A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.144A>G
  hgvsp: ENST00000471994.1:c.144A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419054
  ensembl transcript: ENST00000477788
  gene symbol: RSRC1
  hgvsc: ENST00000477788.1:c.95A>G
  hgvsp: ENST00000477788.1:c.95A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.144A>G
  hgvsp: ENST00000312179.6:c.144A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.144A>G
  hgvsp: ENST00000480820.1:c.144A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.144A>G
  hgvsp: ENST00000476899.1:c.144A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.144A>G
  hgvsp: ENST00000480119.1:c.144A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.221A>G
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.144A>G
  hgvsp: ENST00000494002.1:c.144A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14909
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser48Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/3-157840038-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157840038
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157840038
    reference: chr 3
allele count: 1
allele frequency: 8.378016085790886e-6
allele num: 119360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419054
  ensembl transcript: ENST00000477788
  gene symbol: RSRC1
  hgvsc: ENST00000477788.1:c.96A>C
  hgvsp: ENST00000477788.1:c.96A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.145A>C
  hgvsp: ENST00000471994.1:c.145A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.145A>C
  hgvsp: ENST00000312179.6:c.145A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.145A>C
  hgvsp: ENST00000476899.1:c.145A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.145A>C
  hgvsp: ENST00000494002.1:c.145A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.145A>C
  hgvsp: ENST00000475278.2:c.145A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.145A>C
  hgvsp: ENST00000480820.1:c.145A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.145A>C
  hgvsp: ENST00000464171.1:c.145A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.145A>C
  hgvsp: ENST00000480119.1:c.145A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.222A>C
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.145A>C
  hgvsp: ENST00000295930.3:c.145A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.203A>C
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg49Arg
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

3-157840039-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157840039
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157840039
    reference: chr 3
allele count: 1
allele frequency: 8.380543729677181e-6
allele num: 119324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.146G>C
  hgvsp: ENSP00000420018.1:p.Arg49Thr
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.146G>C
  hgvsp: ENSP00000417690.1:p.Arg49Thr
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.146G>C
  hgvsp: ENSP00000308671.6:p.Arg49Thr
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.204G>C
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.146G>C
  hgvsp: ENSP00000417302.1:p.Arg49Thr
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.146G>C
  hgvsp: ENSP00000419794.1:p.Arg49Thr
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.146G>C
  hgvsp: ENSP00000295930.3:p.Arg49Thr
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419054
  ensembl transcript: ENST00000477788
  gene symbol: RSRC1
  hgvsc: ENST00000477788.1:c.97G>C
  hgvsp: ENSP00000419054.1:p.Arg33Thr
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.146G>C
  hgvsp: ENSP00000420150.1:p.Arg49Thr
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.223G>C
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.146G>C
  hgvsp: ENSP00000419394.1:p.Arg49Thr
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.146G>C
  hgvsp: ENSP00000417816.2:p.Arg49Thr
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg49Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

3-157840039-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157840039
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157840039
    reference: chr 3
allele count: 1
allele frequency: 8.380543729677181e-6
allele num: 119324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.146G>T
  hgvsp: ENSP00000308671.6:p.Arg49Ile
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.146G>T
  hgvsp: ENSP00000420150.1:p.Arg49Ile
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.146G>T
  hgvsp: ENSP00000419794.1:p.Arg49Ile
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.204G>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.146G>T
  hgvsp: ENSP00000417690.1:p.Arg49Ile
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419054
  ensembl transcript: ENST00000477788
  gene symbol: RSRC1
  hgvsc: ENST00000477788.1:c.97G>T
  hgvsp: ENSP00000419054.1:p.Arg33Ile
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.223G>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.146G>T
  hgvsp: ENSP00000420018.1:p.Arg49Ile
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.146G>T
  hgvsp: ENSP00000419394.1:p.Arg49Ile
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.146G>T
  hgvsp: ENSP00000417302.1:p.Arg49Ile
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.146G>T
  hgvsp: ENSP00000417816.2:p.Arg49Ile
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.146G>T
  hgvsp: ENSP00000295930.3:p.Arg49Ile
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg49Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

3-157840049-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157840049
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157840049
    reference: chr 3
allele count: 1
allele frequency: 8.422613031466883e-6
allele num: 118728
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.156C>T
  hgvsp: ENST00000475278.2:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.156C>T
  hgvsp: ENST00000464171.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.156C>T
  hgvsp: ENST00000480119.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.156C>T
  hgvsp: ENST00000312179.6:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.156C>T
  hgvsp: ENST00000471994.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.156C>T
  hgvsp: ENST00000295930.3:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.156C>T
  hgvsp: ENST00000476899.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.156C>T
  hgvsp: ENST00000494002.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.233C>T
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419054
  ensembl transcript: ENST00000477788
  gene symbol: RSRC1
  hgvsc: ENST00000477788.1:c.107C>T
  hgvsp: ENST00000477788.1:c.107C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.156C>T
  hgvsp: ENST00000480820.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.214C>T
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser52Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

3-157840053-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157840053
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157840053
    reference: chr 3
allele count: 2
allele frequency: 1.685345917249515e-5
allele num: 118670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.160G>A
  hgvsp: ENSP00000419794.1:p.Asp54Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.160G>A
  hgvsp: ENSP00000417690.1:p.Asp54Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.160G>A
  hgvsp: ENSP00000420018.1:p.Asp54Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419054
  ensembl transcript: ENST00000477788
  gene symbol: RSRC1
  hgvsc: ENST00000477788.1:c.111G>A
  hgvsp: ENSP00000419054.1:p.Asp38Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.160G>A
  hgvsp: ENSP00000295930.3:p.Asp54Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.160G>A
  hgvsp: ENSP00000308671.6:p.Asp54Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.218G>A
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.237G>A
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.160G>A
  hgvsp: ENSP00000419394.1:p.Asp54Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.160G>A
  hgvsp: ENSP00000417816.2:p.Asp54Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.160G>A
  hgvsp: ENSP00000417302.1:p.Asp54Asn
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.160G>A
  hgvsp: ENSP00000420150.1:p.Asp54Asn
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36828
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14883
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp54Asn
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

3-157840057-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 157840057
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 157840057
    reference: chr 3
allele count: 1
allele frequency: 8.484498820654664e-6
allele num: 117862
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417690
  ensembl transcript: ENST00000494002
  gene symbol: RSRC1
  hgvsc: ENST00000494002.1:c.164T>C
  hgvsp: ENSP00000417690.1:p.Leu55Pro
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000295930
  ensembl transcript: ENST00000295930
  gene symbol: RSRC1
  hgvsc: ENST00000295930.3:c.164T>C
  hgvsp: ENSP00000295930.3:p.Leu55Pro
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420018
  ensembl transcript: ENST00000480119
  gene symbol: RSRC1
  hgvsc: ENST00000480119.1:c.164T>C
  hgvsp: ENSP00000420018.1:p.Leu55Pro
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419054
  ensembl transcript: ENST00000477788
  gene symbol: RSRC1
  hgvsc: ENST00000477788.1:c.115T>C
  hgvsp: ENSP00000419054.1:p.Leu39Pro
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417302
  ensembl transcript: ENST00000471994
  gene symbol: RSRC1
  hgvsc: ENST00000471994.1:c.164T>C
  hgvsp: ENSP00000417302.1:p.Leu55Pro
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000308671
  ensembl transcript: ENST00000312179
  gene symbol: RSRC1
  hgvsc: ENST00000312179.6:c.164T>C
  hgvsp: ENSP00000308671.6:p.Leu55Pro
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419794
  ensembl transcript: ENST00000464171
  gene symbol: RSRC1
  hgvsc: ENST00000464171.1:c.164T>C
  hgvsp: ENSP00000419794.1:p.Leu55Pro
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000471911
  gene symbol: RSRC1
  hgvsc: ENST00000471911.1:n.222T>C
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000419394
  ensembl transcript: ENST00000476899
  gene symbol: RSRC1
  hgvsc: ENST00000476899.1:c.164T>C
  hgvsp: ENSP00000419394.1:p.Leu55Pro
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000417816
  ensembl transcript: ENST00000475278
  gene symbol: RSRC1
  hgvsc: ENST00000475278.2:c.164T>C
  hgvsp: ENSP00000417816.2:p.Leu55Pro
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000174891
  ensembl transcript: ENST00000468344
  gene symbol: RSRC1
  hgvsc: ENST00000468344.1:n.241T>C
  variant of: http://identifiers.org/hgnc/24152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174891
  ensembl protein: ENSP00000420150
  ensembl transcript: ENST00000480820
  gene symbol: RSRC1
  hgvsc: ENST00000480820.1:c.164T>C
  hgvsp: ENSP00000420150.1:p.Leu55Pro
  variant of: http://identifiers.org/hgnc/24152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu55Pro
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 1602
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 406
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1099
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.160556257901391e-5
allele num: 63280
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8788
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.756567425569177e-5
allele num: 11420
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.283e0

DP
type: SiteQuality
SIO_000300: 1.341824e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.63e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.55e0

QD
type: SiteQuality
SIO_000300: 1.461e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.259e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

GenotypeQuality
all individuals: 1099
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1786
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45349
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 9.75e1
variant carriers: 9

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 7.965407373691397e-4
allele num: 8788
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.751313485113835e-4
allele num: 11420
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.903e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

DP
type: SiteQuality
SIO_000300: 1.341824e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.63e-1

FS
type: SiteQuality
SIO_000300: 1.283e0

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.259e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

QD
type: SiteQuality
SIO_000300: 1.461e1

VQSLOD
type: SiteQuality
SIO_000300: 2.55e0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1600
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1796
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63496
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.133016088828461e-4
allele num: 8826
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.42e-1

MQ
type: SiteQuality
SIO_000300: 5.832e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.65e-1

FS
type: SiteQuality
SIO_000300: 3.248e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 1.343962e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.628e1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

GenotypeQuality
all individuals: 58
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1094
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63846
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.83127823220608e-4
allele num: 16382
num of homozygotes: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.178e0

MQRankSum
type: SiteQuality
SIO_000300: -3.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.77e-1

QD
type: SiteQuality
SIO_000300: 2.031e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 2.618e0

DP
type: SiteQuality
SIO_000300: 1.348935e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.31e-2

GenotypeQuality
all individuals: 1451
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1799
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1094
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566268834382733e-5
allele num: 63846
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.69e-1

QD
type: SiteQuality
SIO_000300: 2.031e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.31e-2

DP
type: SiteQuality
SIO_000300: 1.348935e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

FS
type: SiteQuality
SIO_000300: 2.618e0

VQSLOD
type: SiteQuality
SIO_000300: -1.178e0

GenotypeQuality
all individuals: 45633
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6323
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1794
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1614
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8932
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.1020258725897e-5
allele num: 16388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63970
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.012e1

FS
type: SiteQuality
SIO_000300: 3.746e0

DP
type: SiteQuality
SIO_000300: 1.347622e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.08e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.18e-1

QD
type: SiteQuality
SIO_000300: 1.762e1

GenotypeQuality
all individuals: 595
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1614
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1792
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1472
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63962
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8928
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.1020258725897e-5
allele num: 16388
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.347748e6

QD
type: SiteQuality
SIO_000300: 1.477e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 6.117e0

VQSLOD
type: SiteQuality
SIO_000300: -3.214e-1

MQ
type: SiteQuality
SIO_000300: 6.012e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.36e-1

GenotypeQuality
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1614
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6321
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45598
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 120
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1096
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8928
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.1020258725897e-5
allele num: 16388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63962
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.347748e6

VQSLOD
type: SiteQuality
SIO_000300: -3.214e-1

QD
type: SiteQuality
SIO_000300: 1.477e1

MQ
type: SiteQuality
SIO_000300: 6.012e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.36e-1

FS
type: SiteQuality
SIO_000300: 6.117e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

GenotypeQuality
all individuals: 133
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6311
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1097
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63976
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.741258741258741e-5
allele num: 11440
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.113e0

VQSLOD
type: SiteQuality
SIO_000300: -1.158e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e0

MQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.61e-1

DP
type: SiteQuality
SIO_000300: 1.34748e6

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.37e-1

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1793
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1097
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1612
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563086157308991e-5
allele num: 63976
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8934
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.89e1

FS
type: SiteQuality
SIO_000300: 4.113e0

MQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.158e0

DP
type: SiteQuality
SIO_000300: 1.34748e6

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.61e-1

GenotypeQuality
all individuals: 45571
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1794
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63974
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.119570085087326e-4
allele num: 8932
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 1.086e1

FS
type: SiteQuality
SIO_000300: 1.417e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 5.878e1

DP
type: SiteQuality
SIO_000300: 1.347308e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.095e0

GenotypeQuality
all individuals: 1463
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 9.75e1
variant carriers: 225

GenotypeQuality
all individuals: 1599
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6261
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564896247378799e-5
allele num: 63902
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.309468822170901e-3
allele num: 866
num of homozygotes: 0

South Asian
type: Population
allele count: 227
allele frequency: 1.38532893933846e-2
allele num: 16386
num of homozygotes: 5

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8900
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.84e0

QD
type: SiteQuality
SIO_000300: 1.634e1

MQ
type: SiteQuality
SIO_000300: 5.86e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.81e-1

FS
type: SiteQuality
SIO_000300: 5.43e-1

DP
type: SiteQuality
SIO_000300: 1.36003e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

GenotypeQuality
all individuals: 1468
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1080
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6262
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44958
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8894
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.176193836744295e-4
allele num: 8502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15942
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 1.339305e6

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

VQSLOD
type: SiteQuality
SIO_000300: 4.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

QD
type: SiteQuality
SIO_000300: 1.281e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.39e-1

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

GenotypeQuality
all individuals: 1080
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1473
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1602
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56563126252505e-5
allele num: 63872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16024
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8894
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.846e1

DP
type: SiteQuality
SIO_000300: 1.343115e6

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

FS
type: SiteQuality
SIO_000300: 1.823e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

QD
type: SiteQuality
SIO_000300: 9.65e0

GenotypeQuality
all individuals: 1605
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1784
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45169
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 400
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6285
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564847270906359e-5
allele num: 63904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15942
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.66e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

FS
type: SiteQuality
SIO_000300: 9.6e-1

QD
type: SiteQuality
SIO_000300: 1.078e1

MQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

DP
type: SiteQuality
SIO_000300: 1.361964e6

GenotypeQuality
all individuals: 6291
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1087
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.565092183929633e-5
allele num: 63894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 9.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 1.352193e6

QD
type: SiteQuality
SIO_000300: 1.117e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.302e0

VQSLOD
type: SiteQuality
SIO_000300: 6.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

GenotypeQuality
all individuals: 45136
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1790
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8890
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.565043195192187e-5
allele num: 63896
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

QD
type: SiteQuality
SIO_000300: 8.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.55e-1

DP
type: SiteQuality
SIO_000300: 1.35194e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

GenotypeQuality
all individuals: 189
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45109
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1606
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
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: 16378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564945226917058e-5
allele num: 63900
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.891e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.209e0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 9.27e0

MQRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

DP
type: SiteQuality
SIO_000300: 1.351889e6

GenotypeQuality
all individuals: 82
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1602
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 9.75e1
variant carriers: 7

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.235294117647059e-4
allele num: 8500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 1.185e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

QD
type: SiteQuality
SIO_000300: 1.2e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-2

DP
type: SiteQuality
SIO_000300: 1.350684e6

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.809e0

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

GenotypeQuality
all individuals: 223
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1599
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44989
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.25250501002004e-4
allele num: 63872
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.221150323604836e-4
allele num: 16378
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 2.252759630547421e-4
allele num: 8878
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.748557440111908e-4
allele num: 11438
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.176470588235294e-4
allele num: 8500
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

FS
type: SiteQuality
SIO_000300: 2.868e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

DP
type: SiteQuality
SIO_000300: 1.351047e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

QD
type: SiteQuality
SIO_000300: 1.203e1

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6263
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1791
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1599
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1653
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8878
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16378
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.1312625250501e-5
allele num: 63872
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

DP
type: SiteQuality
SIO_000300: 1.351047e6

FS
type: SiteQuality
SIO_000300: 2.868e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

QD
type: SiteQuality
SIO_000300: 1.203e1

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

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

GenotypeQuality
all individuals: 69
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1785
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6247
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8876
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.105751618024179e-5
allele num: 16378
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63854
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.442e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.9e-1

FS
type: SiteQuality
SIO_000300: 1.294e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.749e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 7.37e0

DP
type: SiteQuality
SIO_000300: 1.349325e6

VQSLOD
type: SiteQuality
SIO_000300: -1.794e0

GenotypeQuality
all individuals: 85
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44745
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6234
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566268834382733e-5
allele num: 63846
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16378
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.14e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.19e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.19e-1

DP
type: SiteQuality
SIO_000300: 1.348498e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

FS
type: SiteQuality
SIO_000300: 8.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

GenotypeQuality
all individuals: 1767
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43984
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.107243190423842e-5
allele num: 16374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8852
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.838219156607619e-5
allele num: 63790
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.353e1

DP
type: SiteQuality
SIO_000300: 1.342819e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

FS
type: SiteQuality
SIO_000300: 6.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.224e0

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38060
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.578083575306148e-5
allele num: 63368
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.361e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.668e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

MQRankSum
type: SiteQuality
SIO_000300: 2.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.314713e6

QD
type: SiteQuality
SIO_000300: 1.043e1

GenotypeQuality
all individuals: 2321
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36911
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5650
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.158360179394858e-5
allele num: 63324
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.332e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.8072e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.793e0

QD
type: SiteQuality
SIO_000300: 1.171e1

DP
type: SiteQuality
SIO_000300: 1.314275e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

GenotypeQuality
all individuals: 849
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1662
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33383
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2646
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5507
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8680
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.19047619047619e-4
allele num: 8400
num of homozygotes: 0

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

South Asian
type: Population
allele count: 16
allele frequency: 9.784735812133072e-4
allele num: 16352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63056
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.320728e6

MQ
type: SiteQuality
SIO_000300: 5.981e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 1.623e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e0

MQRankSum
type: SiteQuality
SIO_000300: 7.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 1.373e1

GenotypeQuality
all individuals: 1068
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32315
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

African
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: 6592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.586999301720307e-5
allele num: 63012
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.119202056051891e-5
allele num: 16342
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

DP
type: SiteQuality
SIO_000300: 1.324613e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.97e-1

FS
type: SiteQuality
SIO_000300: 8.138e0

MQ
type: SiteQuality
SIO_000300: 6.069e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.23e-1

QD
type: SiteQuality
SIO_000300: 1.596e1

GenotypeQuality
all individuals: 32315
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2094
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2726
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63012
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.754078231889142e-4
allele num: 11402
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

DP
type: SiteQuality
SIO_000300: 1.324613e6

MQ
type: SiteQuality
SIO_000300: 6.069e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.38e-1

FS
type: SiteQuality
SIO_000300: 8.138e0

MQRankSum
type: SiteQuality
SIO_000300: 6.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.23e-1

QD
type: SiteQuality
SIO_000300: 1.596e1

GenotypeQuality
all individuals: 398
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1719
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.59846547314578e-5
allele num: 62560
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.92e1

DP
type: SiteQuality
SIO_000300: 1.351875e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.462e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 1.481e1

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.82e-1

GenotypeQuality
all individuals: 2383
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3887
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6746
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13367
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1480
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4428
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1068
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10557
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1237
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1837
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7583
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6142
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.944919869301385e-5
allele num: 51416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.04052e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.83e-1

QD
type: SiteQuality
SIO_000300: 1.113e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.92e0

GenotypeQuality
all individuals: 2606
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10978
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4381
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6466
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 977
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15700
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7467
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1895
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2384
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 368
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3124
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5804
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8218
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.027856277755349e-4
allele num: 9908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.932591218305504e-5
allele num: 51744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.32e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e-1

QD
type: SiteQuality
SIO_000300: 1.486e1

MQRankSum
type: SiteQuality
SIO_000300: 9.61e-1

DP
type: SiteQuality
SIO_000300: 1.055912e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

GenotypeQuality
all individuals: 274
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5718
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4256
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7149
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 526
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2070
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11322
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18854
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1956
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2382
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2147
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6212
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.03498240529911e-4
allele num: 9662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51864
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10002
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

DP
type: SiteQuality
SIO_000300: 1.081339e6

QD
type: SiteQuality
SIO_000300: 1.116e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -8.106e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.164e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

GenotypeQuality
all individuals: 87
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9771
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2602
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33235
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2499
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1795
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2383
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 637
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6936
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8752
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.598157743235464e-5
allele num: 55584
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6104
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-2

QD
type: SiteQuality
SIO_000300: 1.081e1

FS
type: SiteQuality
SIO_000300: 3.012e0

VQSLOD
type: SiteQuality
SIO_000300: 5.03e-1

DP
type: SiteQuality
SIO_000300: 1.257303e6

GenotypeDepth
all individuals: 1799
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 468
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2264
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2384
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8269
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2745
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1919
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37628
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7272
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10608
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.107419712070875e-4
allele num: 9030
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12196
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.996e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.92e0

DP
type: SiteQuality
SIO_000300: 1.313548e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: 4.27e-1

QD
type: SiteQuality
SIO_000300: 1.26e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.34e-1

GenotypeDepth
all individuals: 2084
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1185
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6178
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2388
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 52
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1508
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1327
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 856
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39572
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3038
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.698772007693446e-4
allele num: 13518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10950
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7664
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.066552901023891e-4
allele num: 9376
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.052e0

QD
type: SiteQuality
SIO_000300: 1.23e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.013e0

DP
type: SiteQuality
SIO_000300: 1.37873e6

VQSLOD
type: SiteQuality
SIO_000300: 7.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

GenotypeDepth
all individuals: 72
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40923
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5913
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3092
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2385
bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 1
allele frequency: 7.256894049346879e-5
allele num: 13780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.31389183457052e-5
allele num: 60352
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10982
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.073e1

DP
type: SiteQuality
SIO_000300: 1.38662e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.46e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 5.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.43e-1

GenotypeDepth
all individuals: 109
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1364
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1208
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2384
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3115
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40840
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5672
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11012
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7768
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.169486664754803e-5
allele num: 13948
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

DP
type: SiteQuality
SIO_000300: 1.393902e6

QD
type: SiteQuality
SIO_000300: 9.970000000000001e0

GenotypeDepth
all individuals: 77
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5476
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41253
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 87
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2385
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 495
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3171
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.647175094712568e-5
allele num: 60710
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7776
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.053050878145935e-5
allele num: 11046
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9486
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.331e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.239e1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.22e-1

FS
type: SiteQuality
SIO_000300: 1.531e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

DP
type: SiteQuality
SIO_000300: 1.399343e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-1

GenotypeDepth
all individuals: 405
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3457
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4512
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2384
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 80
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1114
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42559
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9692
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11188
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.620377872119778e-5
allele num: 61714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7954
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.47e-1

FS
type: SiteQuality
SIO_000300: 1.378e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 2.299e1

VQSLOD
type: SiteQuality
SIO_000300: 8.26e-1

DP
type: SiteQuality
SIO_000300: 1.421848e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.602e0

MQ
type: SiteQuality
SIO_000300: 5.818e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.313e0

GenotypeDepth
all individuals: 402
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3679
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3600
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 962
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43834
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2384
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.494349915573451e-5
allele num: 15398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9866
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8062
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.866e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.446421e6

VQSLOD
type: SiteQuality
SIO_000300: -1.981e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 4.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

GenotypeDepth
all individuals: 254
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3632
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44391
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2383
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3397
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9922
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.592458118351487e-5
allele num: 62796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8114
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.653e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

QD
type: SiteQuality
SIO_000300: 3.36e0

DP
type: SiteQuality
SIO_000300: 1.454392e6

VQSLOD
type: SiteQuality
SIO_000300: -2.278e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

GenotypeDepth
all individuals: 109
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3698
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44800
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3149
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2384
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 661
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 631
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.585590156656307e-5
allele num: 63068
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9962
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15754
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.669e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.38e-1

DP
type: SiteQuality
SIO_000300: 1.46293e6

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 1.084e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.25e-1

GenotypeDepth
all individuals: 1600
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45154
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3703
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3078
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 638
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2389
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 804
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8156
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9974
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63132
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.798910978852729e-4
allele num: 15794
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

FS
type: SiteQuality
SIO_000300: 2.324e0

QD
type: SiteQuality
SIO_000300: 1.153e1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 1.464866e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.8e-2

GenotypeDepth
all individuals: 468
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2999
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3697
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45381
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2385
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.225790634959549e-4
allele num: 8158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15828
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63168
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

DP
type: SiteQuality
SIO_000300: 1.467592e6

FS
type: SiteQuality
SIO_000300: 4.732e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.16e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.067e0

GenotypeDepth
all individuals: 11131
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2999
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3697
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45381
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2385
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 416
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.583080040526849e-5
allele num: 63168
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.067e0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.467592e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.16e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 4.732e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.19e-1

GenotypeDepth
all individuals: 254
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2878
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3718
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45067
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2383
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10016
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8178
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.28140703517588e-5
allele num: 15920
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.247e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: -7.94e-1

FS
type: SiteQuality
SIO_000300: 9.356e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

DP
type: SiteQuality
SIO_000300: 1.47098e6

QD
type: SiteQuality
SIO_000300: 1.25e1

GenotypeDepth
all individuals: 77
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2388
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 586
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2815
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3732
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45473
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.135582591245454e-4
allele num: 15946
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10030
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.47275e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-2

FS
type: SiteQuality
SIO_000300: 4.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

MQRankSum
type: SiteQuality
SIO_000300: 4.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.295e1

GenotypeDepth
all individuals: 77
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 57
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2765
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3714
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2386
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 239
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45736
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63422
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15968
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.664793549963352e-4
allele num: 8186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.519e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-1

DP
type: SiteQuality
SIO_000300: 1.474777e6

QD
type: SiteQuality
SIO_000300: 1.086e1

GenotypeDepth
all individuals: 72
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45647
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2671
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3716
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2390
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 608
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 593
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
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: 8194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15998
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10040
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.173928382430764e-4
allele num: 11338
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.208e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.9e-2

DP
type: SiteQuality
SIO_000300: 1.477909e6

QD
type: SiteQuality
SIO_000300: 1.261e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 2033
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2563
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2408
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 699
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45210
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3781
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2384
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16126
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.788890841975742e-5
allele num: 11378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63872
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.011e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e0

FS
type: SiteQuality
SIO_000300: 1.585e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.074e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

DP
type: SiteQuality
SIO_000300: 1.486181e6

GenotypeDepth
all individuals: 12781
bin: 2.75e1
variant carriers: 17

GenotypeDepth
all individuals: 204
bin: 5.75e1
variant carriers: 6

GenotypeDepth
all individuals: 66
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 483
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 44
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 674
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45960
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2199
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2531
bin: 9.75e1
variant carriers: 171

GenotypeQuality
all individuals: 389
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3872
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 9
allele frequency: 7.894736842105263e-4
allele num: 11400
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.919494869771113e-4
allele num: 10136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.047851264858275e-4
allele num: 6562
num of homozygotes: 0

South Asian
type: Population
allele count: 37
allele frequency: 2.284514694986417e-3
allele num: 16196
num of homozygotes: 1

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

European (Non-Finnish)
type: Population
allele count: 117
allele frequency: 1.824476047904192e-3
allele num: 64128
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.24e0

DP
type: SiteQuality
SIO_000300: 1.501934e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 1.37e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 127
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 466
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3919
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45682
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2378
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 799
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2065
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554919766140067e-5
allele num: 64312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16234
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.501914e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

QD
type: SiteQuality
SIO_000300: 1.373e1

FS
type: SiteQuality
SIO_000300: 8.092000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.26e0

GenotypeDepth
all individuals: 466
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 158
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2012
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3956
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46342
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2382
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 399
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.9509640561771e-4
allele num: 8402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.267e1

VQSLOD
type: SiteQuality
SIO_000300: 8.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

DP
type: SiteQuality
SIO_000300: 1.503938e6

MQRankSum
type: SiteQuality
SIO_000300: 7.87e-1

FS
type: SiteQuality
SIO_000300: 1.261e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

GenotypeDepth
all individuals: 79
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3956
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2382
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 489
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2012
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46342
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.553711817532084e-5
allele num: 64362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.267e1

MQRankSum
type: SiteQuality
SIO_000300: 7.87e-1

FS
type: SiteQuality
SIO_000300: 1.261e0

DP
type: SiteQuality
SIO_000300: 1.503938e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 307
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 200
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4088
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 47206
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2378
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 720
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544735541275334e-5
allele num: 64736
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16294
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-2

DP
type: SiteQuality
SIO_000300: 1.51408e6

QD
type: SiteQuality
SIO_000300: 1.252e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 466
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1050
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1456
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 218
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48055
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4202
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 240
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2378
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.171508903467666e-4
allele num: 8536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65136
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.109e0

QD
type: SiteQuality
SIO_000300: 1.819e1

MQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-3

MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.64e0

DP
type: SiteQuality
SIO_000300: 1.521924e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.335e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

GenotypeDepth
all individuals: 127
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 301
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1353
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48309
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4253
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2379
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 264
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53275497378989e-5
allele num: 65242
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 1.526008e6

QD
type: SiteQuality
SIO_000300: 1.024e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.469e0

GenotypeDepth
all individuals: 127
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 253
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 200
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2381
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 270
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1291
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4256
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 303
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48467
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.719916288803627e-5
allele num: 11468
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531675039823551e-5
allele num: 65288
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.056e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.23e-1

FS
type: SiteQuality
SIO_000300: 1.609e0

DP
type: SiteQuality
SIO_000300: 1.531403e6

MQRankSum
type: SiteQuality
SIO_000300: 5.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

QD
type: SiteQuality
SIO_000300: 7.96e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.055e0

GenotypeDepth
all individuals: 401
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2947
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 301
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48878
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4310
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 734
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2382
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 238
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65358
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.0960741282614e-5
allele num: 16404
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.531874e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

VQSLOD
type: SiteQuality
SIO_000300: 1.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.33e-1

GenotypeDepth
all individuals: 750
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 200
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 253
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1243
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4303
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48852
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2384
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 731
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.047665488236011e-4
allele num: 16406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65358
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.036e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.2683e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.155e0

DP
type: SiteQuality
SIO_000300: 1.532437e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.723e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.47e-1

GenotypeDepth
all individuals: 14688
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 466
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 303
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 253
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4314
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49059
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2381
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 117
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529098749197223e-5
allele num: 65398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 9.220000000000001e0

FS
type: SiteQuality
SIO_000300: 1.935e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.964e0

VQSLOD
type: SiteQuality
SIO_000300: -1.434e-1

DP
type: SiteQuality
SIO_000300: 1.533567e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeDepth
all individuals: 71
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 303
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4345
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49455
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2379
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 162
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528350909368791e-5
allele num: 65430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.972e0

QD
type: SiteQuality
SIO_000300: 7.76e0

FS
type: SiteQuality
SIO_000300: 5.76e0

MQRankSum
type: SiteQuality
SIO_000300: 6.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.536577e6

GenotypeDepth
all individuals: 258
bin: 5.25e1
variant carriers: 4

GenotypeDepth
all individuals: 79
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4348
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2394
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 238
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1490
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49332
bin: 6.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65304
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: 17
allele frequency: 1.040646425073457e-3
allele num: 16336
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.308e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

DP
type: SiteQuality
SIO_000300: 1.534628e6

GenotypeDepth
all individuals: 3005
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 200
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49292
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2378
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 791
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4352
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.128201985537444e-5
allele num: 16318
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65290
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.946e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: -6.43e-1

QD
type: SiteQuality
SIO_000300: 1.106e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.484e0

FS
type: SiteQuality
SIO_000300: 4.784e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.628e0

VQSLOD
type: SiteQuality
SIO_000300: 3.43e-1

DP
type: SiteQuality
SIO_000300: 1.533999e6

GenotypeDepth
all individuals: 14919
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1552
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2379
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 112
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4347
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49246
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65268
num of homozygotes: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.037e0

DP
type: SiteQuality
SIO_000300: 1.533537e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.42e-1

QD
type: SiteQuality
SIO_000300: 1.25e1

GenotypeDepth
all individuals: 466
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3005
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 300
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1552
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4347
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49246
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2379
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 238
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
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: 0
allele frequency: 0.0e0
allele num: 16308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532144389287247e-5
allele num: 65268
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

QD
type: SiteQuality
SIO_000300: 1.25e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.42e-1

FS
type: SiteQuality
SIO_000300: 3.037e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.533537e6

GenotypeDepth
all individuals: 301
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48372
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2160
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 113
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4247
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2377
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 402
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64972
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16096
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.856100926473487e-5
allele num: 10146
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
SIO_000300: 3.235e0

DP
type: SiteQuality
SIO_000300: 1.525321e6

QD
type: SiteQuality
SIO_000300: 1.119e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.179e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.769e0

GenotypeDepth
all individuals: 171
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 200
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4245
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48648
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2233
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2378
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.078912528095077e-5
allele num: 64958
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.524201e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.0e-1

FS
type: SiteQuality
SIO_000300: 3.071e0

QD
type: SiteQuality
SIO_000300: 1.182e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 6.0e1