2-38178379-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178379
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178379
    reference: chr 2
allele count: 1
allele frequency: 8.877525656049147e-6
allele num: 112644
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.21C>T
  hgvsp: ENST00000407257.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+641C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21507C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.21C>T
  hgvsp: ENST00000234195.3:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+641C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21507C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21507C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-699G>A
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.21C>T
  hgvsp: ENST00000402091.3:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+641C>T
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44733
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Cys7Cys
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

2-38178386-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178386
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178386
    reference: chr 2
allele count: 1
allele frequency: 8.813989564236357e-6
allele num: 113456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.28G>A
  hgvsp: ENSP00000385049.1:p.Glu10Lys
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21514G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.28G>A
  hgvsp: ENSP00000385529.3:p.Glu10Lys
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+648G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+648G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+648G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21514G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21514G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.28G>A
  hgvsp: ENSP00000234195.3:p.Glu10Lys
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-706C>T
  variant of: http://identifiers.org/hgnc/41150
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu10Lys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

2-38178387-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178387
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178387
    reference: chr 2
allele count: 1
allele frequency: 8.807934187115753e-6
allele num: 113534
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.29A>T
  hgvsp: ENSP00000385529.3:p.Glu10Val
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21515A>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21515A>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+649A>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.29A>T
  hgvsp: ENSP00000234195.3:p.Glu10Val
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21515A>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-707T>A
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+649A>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+649A>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.29A>T
  hgvsp: ENSP00000385049.1:p.Glu10Val
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu10Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-38178404-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178404
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178404
    reference: chr 2
allele count: 107
allele frequency: 9.257496842068834e-4
allele num: 115582
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21532C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-724G>A
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+666C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.46C>T
  hgvsp: ENSP00000234195.3:p.Arg16Ter
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+666C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21532C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.46C>T
  hgvsp: ENSP00000385049.1:p.Arg16Ter
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.46C>T
  hgvsp: ENSP00000385529.3:p.Arg16Ter
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21532C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+666C>T
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4848
  bin: 9.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 7.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg16Ter
num of homozygotes: 1
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS

2-38178405-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178405
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178405
    reference: chr 2
allele count: 1
allele frequency: 8.625597322614591e-6
allele num: 115934
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21533G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+667G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21533G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-725C>T
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21533G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.47G>A
  hgvsp: ENSP00000234195.3:p.Arg16Gln
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.47G>A
  hgvsp: ENSP00000385529.3:p.Arg16Gln
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.47G>A
  hgvsp: ENSP00000385049.1:p.Arg16Gln
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+667G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+667G>A
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44750
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg16Gln
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

2-38178406-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178406
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178406
    reference: chr 2
allele count: 51355
allele frequency: 4.304405404499279e-1
allele num: 119308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+668A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-726T>C
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.48A>G
  hgvsp: ENST00000402091.3:c.48A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.48A>G
  hgvsp: ENST00000234195.3:c.48A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21534A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21534A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.48A>G
  hgvsp: ENST00000407257.1:c.48A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+668A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+668A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21534A>G
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3782
  bin: 7.25e1
  variant carriers: 2781
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 5.25e1
  variant carriers: 1155
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 4.25e1
  variant carriers: 629
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 6.25e1
  variant carriers: 2092
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 2.25e1
  variant carriers: 1294
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 8.75e1
  variant carriers: 2685
genotype depth: GenotypeDepth
  all individuals: 12168
  bin: 9.75e1
  variant carriers: 11207
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 2.75e1
  variant carriers: 791
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 3.75e1
  variant carriers: 534
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 4.75e1
  variant carriers: 809
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 7.5e0
  variant carriers: 210
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 1.75e1
  variant carriers: 1447
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 1.25e1
  variant carriers: 829
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 7.75e1
  variant carriers: 2949
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 9.25e1
  variant carriers: 2539
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 6.75e1
  variant carriers: 2492
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 3.25e1
  variant carriers: 554
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 5.75e1
  variant carriers: 1621
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 8.25e1
  variant carriers: 3026
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 7.25e1
  variant carriers: 87
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.75e1
  variant carriers: 190
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 18
hgvs: p.Arg16Arg
num of homozygotes: 11947
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-38178413-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178413
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178413
    reference: chr 2
allele count: 1
allele frequency: 8.362462577979963e-6
allele num: 119582
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21541C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-733G>A
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+675C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21541C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+675C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.55C>T
  hgvsp: ENSP00000234195.3:p.Pro19Ser
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.55C>T
  hgvsp: ENSP00000385529.3:p.Pro19Ser
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.55C>T
  hgvsp: ENSP00000385049.1:p.Pro19Ser
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+675C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21541C>T
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro19Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/2-38178415-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178415
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178415
    reference: chr 2
allele count: 1
allele frequency: 8.352962795903706e-6
allele num: 119718
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.57A>C
  hgvsp: ENST00000234195.3:c.57A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+677A>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.57A>C
  hgvsp: ENST00000402091.3:c.57A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.57A>C
  hgvsp: ENST00000407257.1:c.57A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+677A>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-735T>G
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+677A>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21543A>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21543A>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21543A>C
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6019
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41623
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro19Pro
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-38178416-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178416
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178416
    reference: chr 2
allele count: 1
allele frequency: 8.351288603831571e-6
allele num: 119742
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+678G>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-736C>G
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21544G>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+678G>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21544G>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.58G>C
  hgvsp: ENSP00000385049.1:p.Glu20Gln
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.58G>C
  hgvsp: ENSP00000234195.3:p.Glu20Gln
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+678G>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.58G>C
  hgvsp: ENSP00000385529.3:p.Glu20Gln
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21544G>C
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6019
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu20Gln
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: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

2-38178421-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178421
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178421
    reference: chr 2
allele count: 1
allele frequency: 8.335973058135075e-6
allele num: 119962
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-741A>G
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21549T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21549T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.63T>C
  hgvsp: ENST00000407257.1:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.63T>C
  hgvsp: ENST00000234195.3:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.63T>C
  hgvsp: ENST00000402091.3:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+683T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+683T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21549T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+683T>C
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6019
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5859
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp21Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

2-38178429-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178429
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178429
    reference: chr 2
allele count: 1
allele frequency: 8.323761008173934e-6
allele num: 120138
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-749C>T
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21557G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21557G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.71G>A
  hgvsp: ENSP00000385529.3:p.Ser24Asn
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+691G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.71G>A
  hgvsp: ENSP00000385049.1:p.Ser24Asn
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.71G>A
  hgvsp: ENSP00000234195.3:p.Ser24Asn
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+691G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21557G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+691G>A
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser24Asn
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/2-38178435-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178435
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178435
    reference: chr 2
allele count: 1
allele frequency: 8.306613725848521e-6
allele num: 120386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+697A>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21563A>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+697A>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.77A>C
  hgvsp: ENSP00000385529.3:p.Asp26Ala
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21563A>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-755T>G
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.77A>C
  hgvsp: ENSP00000234195.3:p.Asp26Ala
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+697A>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.77A>C
  hgvsp: ENSP00000385049.1:p.Asp26Ala
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21563A>C
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6565
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp26Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

2-38178436-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178436
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178436
    reference: chr 2
allele count: 31
allele frequency: 2.575820523473203e-4
allele num: 120350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.78C>T
  hgvsp: ENST00000407257.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21564C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.78C>T
  hgvsp: ENST00000402091.3:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.78C>T
  hgvsp: ENST00000234195.3:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-756G>A
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+698C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21564C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+698C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+698C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21564C>T
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp26Asp
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-38178438-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178438
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178438
    reference: chr 2
allele count: 1
allele frequency: 8.298755186721992e-6
allele num: 120500
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21566C>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.80C>G
  hgvsp: ENSP00000385529.3:p.Ala27Gly
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21566C>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21566C>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+700C>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+700C>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.80C>G
  hgvsp: ENSP00000234195.3:p.Ala27Gly
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.80C>G
  hgvsp: ENSP00000385049.1:p.Ala27Gly
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+700C>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-758G>C
  variant of: http://identifiers.org/hgnc/41150
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala27Gly
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

2-38178438-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178438
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178438
    reference: chr 2
allele count: 10
allele frequency: 8.298755186721991e-5
allele num: 120500
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-758G>A
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21566C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.80C>T
  hgvsp: ENSP00000385049.1:p.Ala27Val
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.80C>T
  hgvsp: ENSP00000385529.3:p.Ala27Val
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+700C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21566C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+700C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.80C>T
  hgvsp: ENSP00000234195.3:p.Ala27Val
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+700C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21566C>T
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala27Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/2-38178439-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178439
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178439
    reference: chr 2
allele count: 1
allele frequency: 8.29655195300833e-6
allele num: 120532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21567C>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+701C>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+701C>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.81C>A
  hgvsp: ENST00000402091.3:c.81C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.81C>A
  hgvsp: ENST00000234195.3:c.81C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.81C>A
  hgvsp: ENST00000407257.1:c.81C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21567C>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-759G>T
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+701C>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21567C>A
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6026
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala27Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

2-38178440-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178440
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178440
    reference: chr 2
allele count: 1
allele frequency: 8.295450774795103e-6
allele num: 120548
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.82C>T
  hgvsp: ENSP00000385529.3:p.Gln28Ter
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21568C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21568C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+702C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21568C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-760G>A
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.82C>T
  hgvsp: ENSP00000234195.3:p.Gln28Ter
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+702C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+702C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.82C>T
  hgvsp: ENSP00000385049.1:p.Gln28Ter
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln28Ter
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

2-38178446-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178446
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178446
    reference: chr 2
allele count: 9
allele frequency: 7.457121551081282e-5
allele num: 120690
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.88C>T
  hgvsp: ENSP00000234195.3:p.Arg30Cys
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.88C>T
  hgvsp: ENSP00000385049.1:p.Arg30Cys
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21574C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.88C>T
  hgvsp: ENSP00000385529.3:p.Arg30Cys
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+708C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+708C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-766G>A
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+708C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21574C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21574C>T
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg30Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

2-38178447-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178447
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178447
    reference: chr 2
allele count: 3
allele frequency: 2.484472049689441e-5
allele num: 120750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21575G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-767C>T
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.89G>A
  hgvsp: ENSP00000385049.1:p.Arg30His
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+709G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.89G>A
  hgvsp: ENSP00000385529.3:p.Arg30His
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21575G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.89G>A
  hgvsp: ENSP00000234195.3:p.Arg30His
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+709G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21575G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+709G>A
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg30His
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

2-38178449-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178449
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178449
    reference: chr 2
allele count: 1
allele frequency: 8.278968109414843e-6
allele num: 120788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21577G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+711G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21577G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+711G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.91G>A
  hgvsp: ENSP00000234195.3:p.Gly31Arg
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-769C>T
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.91G>A
  hgvsp: ENSP00000385049.1:p.Gly31Arg
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+711G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21577G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.91G>A
  hgvsp: ENSP00000385529.3:p.Gly31Arg
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly31Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

2-38178452-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178452
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178452
    reference: chr 2
allele count: 1
allele frequency: 8.274994621253496e-6
allele num: 120846
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.94G>A
  hgvsp: ENSP00000385529.3:p.Ala32Thr
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.94G>A
  hgvsp: ENSP00000234195.3:p.Ala32Thr
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21580G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.94G>A
  hgvsp: ENSP00000385049.1:p.Ala32Thr
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+714G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21580G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-772C>T
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+714G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21580G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+714G>A
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala32Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

2-38178453-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178453
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178453
    reference: chr 2
allele count: 2
allele frequency: 1.654752449033625e-5
allele num: 120864
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21581C>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+715C>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21581C>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.95C>G
  hgvsp: ENSP00000385049.1:p.Ala32Gly
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21581C>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.95C>G
  hgvsp: ENSP00000385529.3:p.Ala32Gly
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+715C>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.95C>G
  hgvsp: ENSP00000234195.3:p.Ala32Gly
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+715C>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-773G>C
  variant of: http://identifiers.org/hgnc/41150
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala32Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-38178454-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178454
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178454
    reference: chr 2
allele count: 2
allele frequency: 1.654396558855158e-5
allele num: 120890
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.96C>T
  hgvsp: ENST00000402091.3:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+716C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.96C>T
  hgvsp: ENST00000234195.3:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21582C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-774G>A
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21582C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+716C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21582C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+716C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.96C>T
  hgvsp: ENST00000407257.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala32Ala
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

2-38178456-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178456
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178456
    reference: chr 2
allele count: 2
allele frequency: 1.653904040487571e-5
allele num: 120926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+718C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.98C>T
  hgvsp: ENSP00000385049.1:p.Ser33Phe
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+718C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.98C>T
  hgvsp: ENSP00000234195.3:p.Ser33Phe
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-776G>A
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21584C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21584C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.98C>T
  hgvsp: ENSP00000385529.3:p.Ser33Phe
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21584C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+718C>T
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser33Phe
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

2-38178459-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178459
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178459
    reference: chr 2
allele count: 1
allele frequency: 8.267469162340024e-6
allele num: 120956
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+721C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+721C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21587C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+721C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.101C>T
  hgvsp: ENSP00000234195.3:p.Ser34Phe
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21587C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.101C>T
  hgvsp: ENSP00000385049.1:p.Ser34Phe
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.101C>T
  hgvsp: ENSP00000385529.3:p.Ser34Phe
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-779G>A
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21587C>T
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41611
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser34Phe
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

2-38178461-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178461
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178461
    reference: chr 2
allele count: 1
allele frequency: 8.265829062654984e-6
allele num: 120980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+723A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-781T>C
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.103A>G
  hgvsp: ENSP00000385529.3:p.Ile35Val
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21589A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.103A>G
  hgvsp: ENSP00000385049.1:p.Ile35Val
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21589A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.103A>G
  hgvsp: ENSP00000234195.3:p.Ile35Val
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+723A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+723A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21589A>G
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile35Val
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: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

2-38178463-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178463
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178463
    reference: chr 2
allele count: 1
allele frequency: 8.265145879824779e-6
allele num: 120990
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-783A>G
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.105T>C
  hgvsp: ENST00000407257.1:c.105T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21591T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+725T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+725T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21591T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.105T>C
  hgvsp: ENST00000234195.3:c.105T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+725T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21591T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.105T>C
  hgvsp: ENST00000402091.3:c.105T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile35Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

2-38178470-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178470
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178470
    reference: chr 2
allele count: 1
allele frequency: 8.26296045347127e-6
allele num: 121022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21598C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21598C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+732C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+732C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.112C>T
  hgvsp: ENSP00000385529.3:p.Pro38Ser
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.112C>T
  hgvsp: ENSP00000234195.3:p.Pro38Ser
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.112C>T
  hgvsp: ENSP00000385049.1:p.Pro38Ser
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-790G>A
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+732C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21598C>T
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2661
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro38Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

2-38178472-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178472
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178472
    reference: chr 2
allele count: 1
allele frequency: 8.261595148791329e-6
allele num: 121042
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-792T>C
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.114A>G
  hgvsp: ENST00000402091.3:c.114A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21600A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+734A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+734A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.114A>G
  hgvsp: ENST00000234195.3:c.114A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.114A>G
  hgvsp: ENST00000407257.1:c.114A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21600A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21600A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+734A>G
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2658
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro38Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/2-38178488-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178488
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178488
    reference: chr 2
allele count: 1
allele frequency: 8.259275166011431e-6
allele num: 121076
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.130C>A
  hgvsp: ENSP00000234195.3:p.His44Asn
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+750C>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21616C>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-808G>T
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21616C>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.130C>A
  hgvsp: ENSP00000385529.3:p.His44Asn
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+750C>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.130C>A
  hgvsp: ENSP00000385049.1:p.His44Asn
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21616C>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+750C>A
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41610
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His44Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-38178515-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178515
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178515
    reference: chr 2
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-835G>T
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+777C>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+777C>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21643C>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.157C>A
  hgvsp: ENSP00000234195.3:p.His53Asn
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+777C>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21643C>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.157C>A
  hgvsp: ENSP00000385529.3:p.His53Asn
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21643C>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.157C>A
  hgvsp: ENSP00000385049.1:p.His53Asn
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41610
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His53Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

2-38178516-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178516
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178516
    reference: chr 2
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.158A>G
  hgvsp: ENSP00000385049.1:p.His53Arg
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21644A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21644A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+778A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+778A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-836T>C
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.158A>G
  hgvsp: ENSP00000234195.3:p.His53Arg
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+778A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.158A>G
  hgvsp: ENSP00000385529.3:p.His53Arg
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21644A>G
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His53Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-38178518-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178518
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178518
    reference: chr 2
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.160A>G
  hgvsp: ENSP00000385049.1:p.Lys54Glu
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21646A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21646A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21646A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-838T>C
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.160A>G
  hgvsp: ENSP00000234195.3:p.Lys54Glu
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+780A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.160A>G
  hgvsp: ENSP00000385529.3:p.Lys54Glu
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+780A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+780A>G
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys54Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-38178528-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178528
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178528
    reference: chr 2
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+790C>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+790C>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+790C>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.170C>A
  hgvsp: ENSP00000234195.3:p.Ala57Glu
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21656C>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21656C>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-848G>T
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.170C>A
  hgvsp: ENSP00000385049.1:p.Ala57Glu
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.170C>A
  hgvsp: ENSP00000385529.3:p.Ala57Glu
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21656C>A
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala57Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

2-38178543-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178543
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178543
    reference: chr 2
allele count: 2
allele frequency: 1.652810604432838e-5
allele num: 121006
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.185G>T
  hgvsp: ENSP00000385529.3:p.Arg62Ile
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-863C>A
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21671G>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21671G>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+805G>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.185G>T
  hgvsp: ENSP00000234195.3:p.Arg62Ile
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.185G>T
  hgvsp: ENSP00000385049.1:p.Arg62Ile
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+805G>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+805G>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21671G>T
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg62Ile
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-38178547-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178547
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178546
    reference: chr 2
allele count: 1
allele frequency: 8.26541913940456e-6
allele num: 120986
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21677delT
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.191delT
  hgvsp: ENSP00000234195.3:p.Leu64TyrfsTer47
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21677delT
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+811delT
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-868delA
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.191delT
  hgvsp: ENSP00000385049.1:p.Leu64TyrfsTer47
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21677delT
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.191delT
  hgvsp: ENSP00000385529.3:p.Leu64TyrfsTer47
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+811delT
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+811delT
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu64TyrfsTer47
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: GT
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

2-38178547-GTTA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178547
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178544
    reference: chr 2
allele count: 12
allele frequency: 9.918502967285472e-5
allele num: 120986
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21680_452+21682delTAT
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21680_452+21682delTAT
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.194_196delTAT
  hgvsp: ENSP00000385049.1:p.Leu65del
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+814_17+816delTAT
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+814_17+816delTAT
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.194_196delTAT
  hgvsp: ENSP00000385529.3:p.Leu65del
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.194_196delTAT
  hgvsp: ENSP00000234195.3:p.Leu65del
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21680_452+21682delTAT
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-870_323-868delTAA
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+814_*54+816delTAT
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu65del
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: GTTA
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

2-38178553-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178553
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178553
    reference: chr 2
allele count: 1
allele frequency: 8.266922390132602e-6
allele num: 120964
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21681A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21681A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.195A>G
  hgvsp: ENST00000234195.3:c.195A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.195A>G
  hgvsp: ENST00000407257.1:c.195A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.195A>G
  hgvsp: ENST00000402091.3:c.195A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+815A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+815A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-873T>C
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21681A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+815A>G
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2605
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu65Leu
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

2-38178556-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178556
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178556
    reference: chr 2
allele count: 4
allele frequency: 3.307042346677249e-5
allele num: 120954
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+818T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+818T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.198T>C
  hgvsp: ENST00000234195.3:c.198T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21684T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+818T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.198T>C
  hgvsp: ENST00000407257.1:c.198T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.198T>C
  hgvsp: ENST00000402091.3:c.198T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21684T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-876A>G
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21684T>C
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser66Ser
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

2-38178569-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178569
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178569
    reference: chr 2
allele count: 1
allele frequency: 8.275953389830508e-6
allele num: 120832
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+831T>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.211T>A
  hgvsp: ENSP00000385529.3:p.Ser71Thr
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.211T>A
  hgvsp: ENSP00000234195.3:p.Ser71Thr
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.211T>A
  hgvsp: ENSP00000385049.1:p.Ser71Thr
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21697T>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21697T>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21697T>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-889A>T
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+831T>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+831T>A
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41609
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser71Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

2-38178571-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178571
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178571
    reference: chr 2
allele count: 9
allele frequency: 7.449961094647617e-5
allele num: 120806
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.213T>A
  hgvsp: ENST00000402091.3:c.213T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21699T>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+833T>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-891A>T
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21699T>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+833T>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.213T>A
  hgvsp: ENST00000234195.3:c.213T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21699T>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+833T>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.213T>A
  hgvsp: ENST00000407257.1:c.213T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser71Ser
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

2-38178576-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178576
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178576
    reference: chr 2
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21704C>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.218C>G
  hgvsp: ENSP00000234195.3:p.Ser73Cys
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.218C>G
  hgvsp: ENSP00000385049.1:p.Ser73Cys
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+838C>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21704C>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21704C>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-896G>C
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.218C>G
  hgvsp: ENSP00000385529.3:p.Ser73Cys
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+838C>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+838C>G
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser73Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-38178582-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178582
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178582
    reference: chr 2
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21710G>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.224G>C
  hgvsp: ENSP00000385049.1:p.Arg75Thr
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+844G>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+844G>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21710G>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.224G>C
  hgvsp: ENSP00000234195.3:p.Arg75Thr
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+844G>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.224G>C
  hgvsp: ENSP00000385529.3:p.Arg75Thr
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21710G>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-902C>G
  variant of: http://identifiers.org/hgnc/41150
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg75Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum

2-38178584-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178584
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178584
    reference: chr 2
allele count: 1
allele frequency: 8.2847295864263e-6
allele num: 120704
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+846A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.226A>G
  hgvsp: ENSP00000234195.3:p.Arg76Gly
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+846A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21712A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.226A>G
  hgvsp: ENSP00000385529.3:p.Arg76Gly
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.226A>G
  hgvsp: ENSP00000385049.1:p.Arg76Gly
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21712A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-904T>C
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21712A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+846A>G
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg76Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

2-38178591-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178591
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178591
    reference: chr 2
allele count: 2
allele frequency: 1.658594838452863e-5
allele num: 120584
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.233C>T
  hgvsp: ENSP00000385529.3:p.Ser78Phe
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+853C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+853C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21719C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.233C>T
  hgvsp: ENSP00000385049.1:p.Ser78Phe
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+853C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21719C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-911G>A
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.233C>T
  hgvsp: ENSP00000234195.3:p.Ser78Phe
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21719C>T
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser78Phe
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-38178614-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178614
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178614
    reference: chr 2
allele count: 2
allele frequency: 1.660633033312299e-5
allele num: 120436
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+876A>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-934T>G
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.256A>C
  hgvsp: ENST00000402091.3:c.256A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.256A>C
  hgvsp: ENST00000407257.1:c.256A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+876A>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21742A>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.256A>C
  hgvsp: ENST00000234195.3:c.256A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21742A>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+876A>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21742A>C
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg86Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

2-38178615-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178615
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178615
    reference: chr 2
allele count: 2
allele frequency: 1.660991611992359e-5
allele num: 120410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21743G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21743G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.257G>A
  hgvsp: ENSP00000385049.1:p.Arg86Lys
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.257G>A
  hgvsp: ENSP00000234195.3:p.Arg86Lys
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.257G>A
  hgvsp: ENSP00000385529.3:p.Arg86Lys
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21743G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+877G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+877G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+877G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-935C>T
  variant of: http://identifiers.org/hgnc/41150
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2551
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg86Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-38178619-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178619
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178619
    reference: chr 2
allele count: 1
allele frequency: 8.306475728477921e-6
allele num: 120388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.261T>C
  hgvsp: ENST00000402091.3:c.261T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21747T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+881T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.261T>C
  hgvsp: ENST00000407257.1:c.261T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+881T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.261T>C
  hgvsp: ENST00000234195.3:c.261T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+881T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21747T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21747T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-939A>G
  variant of: http://identifiers.org/hgnc/41150
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn87Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

2-38178623-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178623
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178623
    reference: chr 2
allele count: 1
allele frequency: 8.307579835842223e-6
allele num: 120372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.265T>C
  hgvsp: ENSP00000385529.3:p.Ser89Pro
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+885T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+885T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.265T>C
  hgvsp: ENSP00000385049.1:p.Ser89Pro
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21751T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-943A>G
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21751T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21751T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.265T>C
  hgvsp: ENSP00000234195.3:p.Ser89Pro
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+885T>C
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser89Pro
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-38178624-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178624
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178624
    reference: chr 2
allele count: 2
allele frequency: 1.661792076575379e-5
allele num: 120352
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-944G>C
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+886C>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+886C>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.266C>G
  hgvsp: ENSP00000234195.3:p.Ser89Cys
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21752C>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.266C>G
  hgvsp: ENSP00000385049.1:p.Ser89Cys
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+886C>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21752C>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21752C>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.266C>G
  hgvsp: ENSP00000385529.3:p.Ser89Cys
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser89Cys
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

2-38178631-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178631
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178631
    reference: chr 2
allele count: 4
allele frequency: 3.323639385126714e-5
allele num: 120350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.273C>T
  hgvsp: ENST00000402091.3:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21759C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21759C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.273C>T
  hgvsp: ENST00000407257.1:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-951G>A
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.273C>T
  hgvsp: ENST00000234195.3:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+893C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+893C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21759C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+893C>T
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr91Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

2-38178634-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178634
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178634
    reference: chr 2
allele count: 1
allele frequency: 8.310893919750009e-6
allele num: 120324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21762G>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21762G>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.276G>T
  hgvsp: ENSP00000234195.3:p.Trp92Cys
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.276G>T
  hgvsp: ENSP00000385529.3:p.Trp92Cys
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+896G>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.276G>T
  hgvsp: ENSP00000385049.1:p.Trp92Cys
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+896G>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21762G>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+896G>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-954C>A
  variant of: http://identifiers.org/hgnc/41150
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Trp92Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

2-38178642-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178642
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178642
    reference: chr 2
allele count: 1
allele frequency: 8.310479514667997e-6
allele num: 120330
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-962C>T
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+904G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+904G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21770G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.284G>A
  hgvsp: ENSP00000385049.1:p.Ser95Asn
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21770G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21770G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+904G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.284G>A
  hgvsp: ENSP00000385529.3:p.Ser95Asn
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.284G>A
  hgvsp: ENSP00000234195.3:p.Ser95Asn
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser95Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

2-38178643-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178643
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178643
    reference: chr 2
allele count: 2
allele frequency: 1.662123529020677e-5
allele num: 120328
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.285T>G
  hgvsp: ENSP00000234195.3:p.Ser95Arg
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21771T>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-963A>C
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.285T>G
  hgvsp: ENSP00000385529.3:p.Ser95Arg
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+905T>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+905T>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+905T>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.285T>G
  hgvsp: ENSP00000385049.1:p.Ser95Arg
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21771T>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21771T>G
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser95Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

2-38178648-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178648
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178648
    reference: chr 2
allele count: 3
allele frequency: 2.493060980271577e-5
allele num: 120334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.290C>T
  hgvsp: ENSP00000385529.3:p.Ala97Val
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21776C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+910C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.290C>T
  hgvsp: ENSP00000385049.1:p.Ala97Val
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.290C>T
  hgvsp: ENSP00000234195.3:p.Ala97Val
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+910C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+910C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-968G>A
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21776C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21776C>T
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala97Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum

2-38178673-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178673
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178673
    reference: chr 2
allele count: 417
allele frequency: 3.465757978723404e-3
allele num: 120320
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+935A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21801A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21801A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.315A>G
  hgvsp: ENST00000407257.1:c.315A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21801A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.315A>G
  hgvsp: ENST00000234195.3:c.315A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.315A>G
  hgvsp: ENST00000402091.3:c.315A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+935A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-993T>C
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+935A>G
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 8.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 7.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 8.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 6003
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 9.75e1
  variant carriers: 266
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 6.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr105Thr
num of homozygotes: 2
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

2-38178675-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178675
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178675
    reference: chr 2
allele count: 4
allele frequency: 3.324689141565264e-5
allele num: 120312
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.317G>C
  hgvsp: ENSP00000234195.3:p.Gly106Ala
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21803G>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21803G>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+937G>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+937G>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.317G>C
  hgvsp: ENSP00000385049.1:p.Gly106Ala
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21803G>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+937G>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-995C>G
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.317G>C
  hgvsp: ENSP00000385529.3:p.Gly106Ala
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6043
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6525
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly106Ala
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

2-38178681-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178681
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178681
    reference: chr 2
allele count: 1
allele frequency: 8.312413758707254e-6
allele num: 120302
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.323C>T
  hgvsp: ENSP00000234195.3:p.Thr108Ile
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+943C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.323C>T
  hgvsp: ENSP00000385049.1:p.Thr108Ile
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+943C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21809C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-1001G>A
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+943C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21809C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.323C>T
  hgvsp: ENSP00000385529.3:p.Thr108Ile
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21809C>T
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6043
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr108Ile
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-38178684-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178684
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178684
    reference: chr 2
allele count: 13
allele frequency: 1.080685653482302e-4
allele num: 120294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.326A>G
  hgvsp: ENSP00000385529.3:p.Asp109Gly
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+946A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.326A>G
  hgvsp: ENSP00000385049.1:p.Asp109Gly
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+946A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21812A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21812A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21812A>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.326A>G
  hgvsp: ENSP00000234195.3:p.Asp109Gly
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-1004T>C
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+946A>G
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6042
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp109Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-38178685-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178685
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178685
    reference: chr 2
allele count: 1
allele frequency: 8.312413758707254e-6
allele num: 120302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.327T>C
  hgvsp: ENST00000407257.1:c.327T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+947T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-1005A>G
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.327T>C
  hgvsp: ENST00000234195.3:c.327T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21813T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+947T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21813T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.327T>C
  hgvsp: ENST00000402091.3:c.327T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21813T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+947T>C
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6042
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp109Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

2-38178687-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178687
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178687
    reference: chr 2
allele count: 1
allele frequency: 8.312966565248474e-6
allele num: 120294
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.329T>C
  hgvsp: ENSP00000234195.3:p.Ile110Thr
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21815T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+949T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21815T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.329T>C
  hgvsp: ENSP00000385529.3:p.Ile110Thr
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21815T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-1007A>G
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+949T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+949T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.329T>C
  hgvsp: ENSP00000385049.1:p.Ile110Thr
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6042
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile110Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-38178696-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178696
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178696
    reference: chr 2
allele count: 1
allele frequency: 8.311999202048076e-6
allele num: 120308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+958C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21824C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.338C>T
  hgvsp: ENSP00000385049.1:p.Ser113Phe
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+958C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21824C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.338C>T
  hgvsp: ENSP00000385529.3:p.Ser113Phe
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+958C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21824C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.338C>T
  hgvsp: ENSP00000234195.3:p.Ser113Phe
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-1016G>A
  variant of: http://identifiers.org/hgnc/41150
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6042
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser113Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD

2-38178701-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178701
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178701
    reference: chr 2
allele count: 6
allele frequency: 4.986702127659574e-5
allele num: 120320
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-1021C>T
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21829G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+963G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.343G>A
  hgvsp: ENSP00000234195.3:p.Asp115Asn
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.343G>A
  hgvsp: ENSP00000385049.1:p.Asp115Asn
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.343G>A
  hgvsp: ENSP00000385529.3:p.Asp115Asn
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21829G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21829G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+963G>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+963G>A
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp115Asn
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

2-38178701-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178701
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178701
    reference: chr 2
allele count: 1
allele frequency: 8.311170212765958e-6
allele num: 120320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21829G>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-1021C>A
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.343G>T
  hgvsp: ENSP00000385049.1:p.Asp115Tyr
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.343G>T
  hgvsp: ENSP00000234195.3:p.Asp115Tyr
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21829G>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21829G>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+963G>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.343G>T
  hgvsp: ENSP00000385529.3:p.Asp115Tyr
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+963G>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+963G>T
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp115Tyr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

2-38178703-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178703
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178703
    reference: chr 2
allele count: 4
allele frequency: 3.32408130702877e-5
allele num: 120334
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.345C>T
  hgvsp: ENST00000234195.3:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+965C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.345C>T
  hgvsp: ENST00000402091.3:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+965C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.345C>T
  hgvsp: ENST00000407257.1:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-1023G>A
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21831C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21831C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+965C>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21831C>T
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp115Asp
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

2-38178707-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178707
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178707
    reference: chr 2
allele count: 40
allele frequency: 3.323418468236428e-4
allele num: 120358
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-1027A>C
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21835T>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.349T>G
  hgvsp: ENSP00000234195.3:p.Cys117Gly
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+969T>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+969T>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+969T>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21835T>G
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.349T>G
  hgvsp: ENSP00000385049.1:p.Cys117Gly
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.349T>G
  hgvsp: ENSP00000385529.3:p.Cys117Gly
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21835T>G
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5944
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 4087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6672
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Cys117Gly
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

2-38178714-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178714
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178714
    reference: chr 2
allele count: 1
allele frequency: 8.307855908547122e-6
allele num: 120368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21842G>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+976G>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.356G>T
  hgvsp: ENSP00000234195.3:p.Ser119Ile
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.356G>T
  hgvsp: ENSP00000385529.3:p.Ser119Ile
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-1034C>A
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21842G>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+976G>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21842G>T
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.356G>T
  hgvsp: ENSP00000385049.1:p.Ser119Ile
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+976G>T
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5945
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser119Ile
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-38178716-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178716
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178716
    reference: chr 2
allele count: 6
allele frequency: 4.9841338406074e-5
allele num: 120382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.358T>C
  hgvsp: ENSP00000385049.1:p.Phe120Leu
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.358T>C
  hgvsp: ENSP00000385529.3:p.Phe120Leu
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21844T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+978T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21844T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-1036A>G
  variant of: http://identifiers.org/hgnc/41150
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.358T>C
  hgvsp: ENSP00000234195.3:p.Phe120Leu
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+978T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+978T>C
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21844T>C
  variant of: http://identifiers.org/hgnc/26567
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5945
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe120Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/2-38178723-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38178723
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 38178723
    reference: chr 2
allele count: 2
allele frequency: 1.661377946869133e-5
allele num: 120382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000416367
  ensembl transcript: ENST00000442857
  gene symbol: RMDN2
  hgvsc: ENST00000442857.1:c.17+985C>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385529
  ensembl transcript: ENST00000402091
  gene symbol: RMDN2
  hgvsc: ENST00000402091.3:c.365C>A
  hgvsp: ENSP00000385529.3:p.Ser122Tyr
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000346549
  ensembl transcript: ENST00000354545
  gene symbol: RMDN2
  hgvsc: ENST00000354545.2:c.452+21851C>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000386004
  ensembl transcript: ENST00000406384
  gene symbol: RMDN2
  hgvsc: ENST00000406384.1:c.452+21851C>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000392977
  ensembl transcript: ENST00000417700
  gene symbol: RMDN2
  hgvsc: ENST00000417700.2:c.17+985C>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000393705
  ensembl transcript: ENST00000414644
  gene symbol: RMDN2
  hgvsc: ENST00000414644.1:c.452+21851C>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000234195
  ensembl transcript: ENST00000234195
  gene symbol: RMDN2
  hgvsc: ENST00000234195.3:c.365C>A
  hgvsp: ENSP00000234195.3:p.Ser122Tyr
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000399495
  ensembl transcript: ENST00000440353
  gene symbol: RMDN2
  hgvsc: ENST00000440353.1:c.*54+985C>A
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115841
  ensembl protein: ENSP00000385049
  ensembl transcript: ENST00000407257
  gene symbol: RMDN2
  hgvsc: ENST00000407257.1:c.365C>A
  hgvsp: ENSP00000385049.1:p.Ser122Tyr
  variant of: http://identifiers.org/hgnc/26567
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000235848
  ensembl transcript: ENST00000414365
  gene symbol: RMDN2-AS1
  hgvsc: ENST00000414365.2:n.323-1043G>T
  variant of: http://identifiers.org/hgnc/41150
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5945
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6043
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser122Tyr
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 115
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1152
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3553
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1297
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3072
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11006
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55574224462491e-5
allele num: 64278
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.461506e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 3.83e0

VQSLOD
type: SiteQuality
SIO_000300: -1.765e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.909e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.6e-2

MQ
type: SiteQuality
SIO_000300: 5.871e1

QD
type: SiteQuality
SIO_000300: 1.228e1

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e0

GenotypeQuality
all individuals: 656
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3488
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1227
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3503
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44736
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 2.15e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.122e0

FS
type: SiteQuality
SIO_000300: 2.842e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: -8.469e-1

DP
type: SiteQuality
SIO_000300: 3.46904e6

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44734
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 507
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 66
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3582
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1167
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3474
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169043722235212e-4
allele num: 8554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.582e0

VQSLOD
type: SiteQuality
SIO_000300: 4.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.257e1

DP
type: SiteQuality
SIO_000300: 3.470087e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.189e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

GenotypeQuality
all individuals: 44768
bin: 9.75e1
variant carriers: 106

GenotypeQuality
all individuals: 122
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1233
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2685
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4355
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1305
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1359
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.78694907335306e-5
allele num: 12842
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.17096018735363e-3
allele num: 854
num of homozygotes: 0

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

Latino
type: Population
allele count: 6
allele frequency: 5.291938613512083e-4
allele num: 11338
num of homozygotes: 0

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

African
type: Population
allele count: 93
allele frequency: 9.083805430748193e-3
allele num: 10238
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.212061659399374e-5
allele num: 65132
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.56e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.469e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.43e-2

DP
type: SiteQuality
SIO_000300: 3.493228e6

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

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

GenotypeQuality
all individuals: 1220
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2565
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4638
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1241
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1304
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13062
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: 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: 6596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
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: 1
allele frequency: 1.532707988474036e-5
allele num: 65244
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.747e0

DP
type: SiteQuality
SIO_000300: 3.49412e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

FS
type: SiteQuality
SIO_000300: 7.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 2.679e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 789
bin: 8.25e1
variant carriers: 123

GenotypeQuality
all individuals: 157
bin: 4.25e1
variant carriers: 101

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 20

GenotypeQuality
all individuals: 779
bin: 9.25e1
variant carriers: 102

GenotypeQuality
all individuals: 754
bin: 7.75e1
variant carriers: 162

GenotypeQuality
all individuals: 95
bin: 2.5e0
variant carriers: 7

GenotypeQuality
all individuals: 228
bin: 3.25e1
variant carriers: 86

GenotypeQuality
all individuals: 147
bin: 2.75e1
variant carriers: 31

GenotypeQuality
all individuals: 229
bin: 3.75e1
variant carriers: 139

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 18

GenotypeQuality
all individuals: 51837
bin: 9.75e1
variant carriers: 37715

GenotypeQuality
all individuals: 237
bin: 5.25e1
variant carriers: 206

GenotypeQuality
all individuals: 712
bin: 2.25e1
variant carriers: 46

GenotypeQuality
all individuals: 154
bin: 5.75e1
variant carriers: 119

GenotypeQuality
all individuals: 2252
bin: 6.25e1
variant carriers: 214

GenotypeQuality
all individuals: 913
bin: 6.75e1
variant carriers: 199

GenotypeQuality
all individuals: 532
bin: 8.75e1
variant carriers: 77

Other
type: Population
allele count: 366
allele frequency: 4.140271493212669e-1
allele num: 884
num of homozygotes: 75

European (Finnish)
type: Population
allele count: 2509
allele frequency: 3.801515151515151e-1
allele num: 6600
num of homozygotes: 476

South Asian
type: Population
allele count: 8900
allele frequency: 5.729367838290202e-1
allele num: 15534
num of homozygotes: 2505

African
type: Population
allele count: 2742
allele frequency: 2.656976744186046e-1
allele num: 10320
num of homozygotes: 363

Latino
type: Population
allele count: 4484
allele frequency: 3.938861560084329e-1
allele num: 11384
num of homozygotes: 876

East Asian
type: Population
allele count: 865
allele frequency: 1.007923560941505e-1
allele num: 8582
num of homozygotes: 42

European (Non-Finnish)
type: Population
allele count: 31489
allele frequency: 4.770771468395855e-1
allele num: 66004
num of homozygotes: 7610

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.72e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

DP
type: SiteQuality
SIO_000300: 4.25488e6

VQSLOD
type: SiteQuality
SIO_000300: 5.59e0

QD
type: SiteQuality
SIO_000300: 2.163e1

FS
type: SiteQuality
SIO_000300: 5.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.88e-1

GenotypeQuality
all individuals: 1715
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41627
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 255
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1818
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5305
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1317
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-5
allele num: 66100
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15638
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.205e0

VQSLOD
type: SiteQuality
SIO_000300: -2.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

FS
type: SiteQuality
SIO_000300: 1.897e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.97e-1

QD
type: SiteQuality
SIO_000300: 2.571e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.42e-1

DP
type: SiteQuality
SIO_000300: 3.266493e6

GenotypeQuality
all individuals: 459
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1707
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 461
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 255
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2232
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1829
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1947
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 4.75e1
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: 10344
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512172992590352e-5
allele num: 66130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15734
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.229e0

VQSLOD
type: SiteQuality
SIO_000300: -1.279e-1

DP
type: SiteQuality
SIO_000300: 3.268239e6

QD
type: SiteQuality
SIO_000300: 1.663e1

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.12e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

GenotypeQuality
all individuals: 1325
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 414
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1948
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 212
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2250
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41622
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5552
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1831
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15760
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512081531436175e-5
allele num: 66134
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: 3.328e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

DP
type: SiteQuality
SIO_000300: 3.268771e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.27e-1

QD
type: SiteQuality
SIO_000300: 2.906e1

VQSLOD
type: SiteQuality
SIO_000300: -3.085e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.86e-2

GenotypeQuality
all individuals: 167
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41622
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 774
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1831
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1950
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1729
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1297
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2277
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1327
bin: 8.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.305170239596469e-5
allele num: 15860
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 3.272385e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.05e-2

QD
type: SiteQuality
SIO_000300: 5.07e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

MQRankSum
type: SiteQuality
SIO_000300: 7.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.208e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 362
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1322
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1956
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1759
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2333
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1327
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 41621
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1839
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6143
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 902
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: 1.508841813024323e-5
allele num: 66276
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15950
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.94e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

DP
type: SiteQuality
SIO_000300: 3.277886e6

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

FS
type: SiteQuality
SIO_000300: 1.245e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.971e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

QD
type: SiteQuality
SIO_000300: 1.443e1

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

GenotypeQuality
all individuals: 145
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1338
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2422
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41618
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1804
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 232
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1966
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507249871883761e-5
allele num: 66346
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

DP
type: SiteQuality
SIO_000300: 3.283426e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-2

FS
type: SiteQuality
SIO_000300: 5.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.56e0

QD
type: SiteQuality
SIO_000300: 1.632e1

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

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

GenotypeQuality
all individuals: 534
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1341
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2401
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1338
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6387
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1853
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41623
bin: 9.75e1
variant carriers: 31

GenotypeQuality
all individuals: 1962
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.222000995520159e-5
allele num: 16072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.029362997799283e-5
allele num: 66342
num of homozygotes: 0

East Asian
type: Population
allele count: 24
allele frequency: 2.780996523754345e-3
allele num: 8630
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: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.302e1

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

FS
type: SiteQuality
SIO_000300: 5.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.141e0

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

DP
type: SiteQuality
SIO_000300: 3.28464e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

GenotypeQuality
all individuals: 1350
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1877
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2511
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6747
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41618
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1972
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.180469715698394e-5
allele num: 16180
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: 6600
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66382
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.76e-1

DP
type: SiteQuality
SIO_000300: 3.287485e6

VQSLOD
type: SiteQuality
SIO_000300: 9.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 5.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.476e0

QD
type: SiteQuality
SIO_000300: 1.336e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
all individuals: 75
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1877
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1378
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41618
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 458
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1972
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6747
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1823
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2511
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.038594799795125e-5
allele num: 66382
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.626970227670753e-4
allele num: 11420
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16180
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.476e0

VQSLOD
type: SiteQuality
SIO_000300: 9.85e-1

FS
type: SiteQuality
SIO_000300: 5.3e-1

QD
type: SiteQuality
SIO_000300: 1.336e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.03e-1

DP
type: SiteQuality
SIO_000300: 3.287485e6

GenotypeQuality
all individuals: 69
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1883
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41616
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6793
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1824
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1973
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506387081224391e-5
allele num: 66384
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

FS
type: SiteQuality
SIO_000300: 4.396e0

MQRankSum
type: SiteQuality
SIO_000300: 7.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.234e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

DP
type: SiteQuality
SIO_000300: 3.2883e6

VQSLOD
type: SiteQuality
SIO_000300: 6.850000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.586e0

GenotypeQuality
all individuals: 6796
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41616
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 139
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1827
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1388
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1890
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1975
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2534
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66382
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.162188809465122e-5
allele num: 16228
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.432e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 7.138e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

QD
type: SiteQuality
SIO_000300: 1.353e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.33e-1

DP
type: SiteQuality
SIO_000300: 3.289408e6

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1406
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2587
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1979
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1903
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41616
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 1855
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6927
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16310
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.354524110529167e-4
allele num: 66444
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: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.293141e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.052e0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

FS
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

QD
type: SiteQuality
SIO_000300: 1.366e1

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1419
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1981
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7029
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41612
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1869
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1913
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2605
bin: 6.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504890895410083e-5
allele num: 66450
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.316423442205235e-4
allele num: 8634
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.39e-1

DP
type: SiteQuality
SIO_000300: 3.293796e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQRankSum
type: SiteQuality
SIO_000300: 5.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

FS
type: SiteQuality
SIO_000300: 1.862e0

QD
type: SiteQuality
SIO_000300: 1.49e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e0

GenotypeQuality
all individuals: 100
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 290
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GenotypeQuality
all individuals: 1423
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GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1917
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variant carriers: 0

GenotypeQuality
all individuals: 7104
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variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1878
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504528631179851e-5
allele num: 66466
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-1

QD
type: SiteQuality
SIO_000300: 1.396e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

FS
type: SiteQuality
SIO_000300: 1.583e0

DP
type: SiteQuality
SIO_000300: 3.294743e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.64e0

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-3

GenotypeQuality
all individuals: 7151
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1884
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variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 2.5e0
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GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 45
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variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1984
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41611
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1432
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2620
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -5.05e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.058e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.41e-1

DP
type: SiteQuality
SIO_000300: 3.295568e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1984
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007880647295915e-5
allele num: 66492
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

DP
type: SiteQuality
SIO_000300: 3.296149e6

FS
type: SiteQuality
SIO_000300: 1.374e0

QD
type: SiteQuality
SIO_000300: 1.441e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.924557351809084e-4
allele num: 10392
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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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: 66508
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.296634e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.39e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.1106e1

VQSLOD
type: SiteQuality
SIO_000300: -3.015e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

QD
type: SiteQuality
SIO_000300: 1.593e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 41613
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1373
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1439
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.314814814814815e-4
allele num: 8640
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66520
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: 908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.407e1

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

FS
type: SiteQuality
SIO_000300: 5.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.779e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.37e-1

DP
type: SiteQuality
SIO_000300: 3.296988e6

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 31
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GenotypeQuality
all individuals: 1373
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 28
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GenotypeQuality
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GenotypeQuality
all individuals: 40
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503036132988637e-5
allele num: 66532
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.667e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.98e-1

FS
type: SiteQuality
SIO_000300: 4.223e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.35e-1

DP
type: SiteQuality
SIO_000300: 3.297661e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.18e1

VQSLOD
type: SiteQuality
SIO_000300: 3.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.26e0

GenotypeQuality
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variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50271992306074e-5
allele num: 66546
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQ
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.29796e6

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502629601803156e-5
allele num: 66550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66562
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 8.755034144633164e-5
allele num: 11422
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7390
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1374
bin: 8.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.299114e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.47e-1

QD
type: SiteQuality
SIO_000300: 1.421e1

FS
type: SiteQuality
SIO_000300: 4.399e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.636e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1447
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1895
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1992
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7416
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2655
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1374
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 9.470000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: -8.119999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.741e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.32e-1

FS
type: SiteQuality
SIO_000300: 7.178e0

DP
type: SiteQuality
SIO_000300: 3.299632e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 174
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1891
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1992
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2650
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1447
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7444
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1374
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1926
bin: 8.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.214e0

QD
type: SiteQuality
SIO_000300: 8.41e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.454e0

VQSLOD
type: SiteQuality
SIO_000300: -1.988e0

DP
type: SiteQuality
SIO_000300: 3.299547e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.55e-1

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2649
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41610
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 173
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1926
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7444
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1447
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1893
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1374
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1992
bin: 9.25e1
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: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.41e-1

FS
type: SiteQuality
SIO_000300: 1.306e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.838e0

DP
type: SiteQuality
SIO_000300: 3.299514e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

QD
type: SiteQuality
SIO_000300: 1.331e1

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

GenotypeQuality
all individuals: 1445
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1892
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7446
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1374
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1992
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2650
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41611
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1926
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.637625289128758e-5
allele num: 10376
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.111e0

QD
type: SiteQuality
SIO_000300: 1.521e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.21e0

DP
type: SiteQuality
SIO_000300: 3.299456e6

FS
type: SiteQuality
SIO_000300: 2.451e0

VQSLOD
type: SiteQuality
SIO_000300: 9.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

GenotypeQuality
all individuals: 1886
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1926
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1374
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1439
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1992
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2634
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7403
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41612
bin: 9.75e1
variant carriers: 1

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: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.536e0

QD
type: SiteQuality
SIO_000300: 1.009e1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.583e0

DP
type: SiteQuality
SIO_000300: 3.298967e6

GenotypeQuality
all individuals: 1374
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1924
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 261
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1992
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1881
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variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41611
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7271
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2612
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.933114247052001e-4
allele num: 10346
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 3.297458e6

FS
type: SiteQuality
SIO_000300: 4.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

QD
type: SiteQuality
SIO_000300: 1.104e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

VQSLOD
type: SiteQuality
SIO_000300: 3.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.151e0

GenotypeQuality
all individuals: 279
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2601
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1992
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41617
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 73
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1924
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1439
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.76e0

MQ
type: SiteQuality
SIO_000300: 5.665e1

QD
type: SiteQuality
SIO_000300: 1.814e1

MQRankSum
type: SiteQuality
SIO_000300: -1.587e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 3.296726e6

GenotypeQuality
all individuals: 2601
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 7170
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1924
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 53
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variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41617
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1439
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.352163461538462e-4
allele num: 66560
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.818181818181818e-4
allele num: 16500
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.665e1

VQSLOD
type: SiteQuality
SIO_000300: 3.76e0

MQRankSum
type: SiteQuality
SIO_000300: -1.587e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

DP
type: SiteQuality
SIO_000300: 3.296726e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.1e-2

QD
type: SiteQuality
SIO_000300: 1.814e1

GenotypeQuality
all individuals: 80
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1923
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1437
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1376
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 59
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41609
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1991
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1880
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50271992306074e-5
allele num: 66546
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.78e-1

QD
type: SiteQuality
SIO_000300: 1.268e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e0

MQRankSum
type: SiteQuality
SIO_000300: 7.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 8.737e0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e-1

DP
type: SiteQuality
SIO_000300: 3.295941e6

GenotypeQuality
all individuals: 64
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1439
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7132
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2596
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1991
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1881
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1923
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41608
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1376
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.424242424242424e-4
allele num: 16500
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66548
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 9.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.62e-1

FS
type: SiteQuality
SIO_000300: 1.776e0

DP
type: SiteQuality
SIO_000300: 3.295804e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.525e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.335e1

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

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1924
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1877
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6907
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1442
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1990
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503759398496241e-5
allele num: 66500
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.331e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
type: SiteQuality
SIO_000300: -3.41e-1

FS
type: SiteQuality
SIO_000300: 1.601e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.006e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 3.293301e6

GenotypeQuality
all individuals: 1444
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1925
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2581
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41609
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 1990
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6874
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
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: 9
allele frequency: 1.353505579450778e-4
allele num: 66494
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.293e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.61e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

DP
type: SiteQuality
SIO_000300: 3.29306e6

QD
type: SiteQuality
SIO_000300: 1.392e1

GenotypeQuality
all individuals: 1922
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1990
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1881
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41607
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 126
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6786
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2578
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1375
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66488
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.877e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.35e-1

DP
type: SiteQuality
SIO_000300: 3.291943e6

QD
type: SiteQuality
SIO_000300: 1.592e1

FS
type: SiteQuality
SIO_000300: 3.081e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.45e-1

GenotypeQuality
all individuals: 2564
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 130
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1377
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1990
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1441
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6732
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41608
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1882
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504755025881786e-5
allele num: 66456
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.69e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.703e0

MQ
type: SiteQuality
SIO_000300: 5.893e1

DP
type: SiteQuality
SIO_000300: 3.290922e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.122e0

QD
type: SiteQuality
SIO_000300: 1.431e1

FS
type: SiteQuality
SIO_000300: 3.349e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.211e0

GenotypeQuality
all individuals: 474
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41610
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 116
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1990
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1922
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6733
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1886
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
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: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504483360414034e-5
allele num: 66468
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 7.55e0

MQRankSum
type: SiteQuality
SIO_000300: -1.453e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

DP
type: SiteQuality
SIO_000300: 3.290615e6

VQSLOD
type: SiteQuality
SIO_000300: -2.586e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.098e0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1440
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 143
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6602
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1878
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2565
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41610
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
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: 2
allele frequency: 3.010778587342687e-5
allele num: 66428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.827e0

QD
type: SiteQuality
SIO_000300: 1.366e1

VQSLOD
type: SiteQuality
SIO_000300: 9.6e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 4.09e-1

DP
type: SiteQuality
SIO_000300: 3.289558e6

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.46e-1

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41611
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1885
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
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: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66382
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.213150551983501e-4
allele num: 16486
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10046
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.755e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.610000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.88e-1

DP
type: SiteQuality
SIO_000300: 3.287439e6

QD
type: SiteQuality
SIO_000300: 1.398e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

GenotypeQuality
all individuals: 1375
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1437
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66374
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.992428770671449e-4
allele num: 10038
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.77e-1

DP
type: SiteQuality
SIO_000300: 3.28744e6

VQSLOD
type: SiteQuality
SIO_000300: -3.599e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

FS
type: SiteQuality
SIO_000300: 1.673e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.7e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

QD
type: SiteQuality
SIO_000300: 8.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.097e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2555
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 6443
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1991
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
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: 1
allele frequency: 1.506795648374167e-5
allele num: 66366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.473e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

DP
type: SiteQuality
SIO_000300: 3.286814e6

MQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e-1

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

GenotypeQuality
all individuals: 1991
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2554
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 209
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variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10012
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
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: 902
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506886471173262e-5
allele num: 66362
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.28664e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

QD
type: SiteQuality
SIO_000300: 1.28e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.619e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

GenotypeQuality
all individuals: 1884
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.013682116810319e-5
allele num: 66364
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8620
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
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e0

MQRankSum
type: SiteQuality
SIO_000300: 3.66e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

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

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.027364233620638e-5
allele num: 66364
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.86e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.781173164734808e-5
allele num: 11388
num of homozygotes: 0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.29e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
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GenotypeQuality
all individuals: 2540
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
all individuals: 1374
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GenotypeQuality
all individuals: 142
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1990
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variant carriers: 0

GenotypeQuality
all individuals: 169
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variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6490
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GenotypeQuality
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GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41611
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 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: 9980
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66360
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.121e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.0e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.39e-1

FS
type: SiteQuality
SIO_000300: 5.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 3.286042e6

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
all individuals: 1990
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6462
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1435
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41610
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1927
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2538
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1374
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1885
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9982
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
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: 2
allele frequency: 3.013772942346524e-5
allele num: 66362
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.22e-1

FS
type: SiteQuality
SIO_000300: 8.37e-1

MQ
type: SiteQuality
SIO_000300: 5.904e1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: 6.76e-1

QD
type: SiteQuality
SIO_000300: 1.363e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.82e-1

DP
type: SiteQuality
SIO_000300: 3.286059e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.18e0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1437
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41611
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1926
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1374
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6489
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1886
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 3.75e1
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: 9978
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506614035616356e-5
allele num: 66374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.704e0

DP
type: SiteQuality
SIO_000300: 3.286155e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.565e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

VQSLOD
type: SiteQuality
SIO_000300: -2.828e0

FS
type: SiteQuality
SIO_000300: 1.6446e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.196e1

MQRankSum
type: SiteQuality
SIO_000300: -1.059e0

GenotypeQuality
all individuals: 1426
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2531
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6497
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1374
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 633
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1985
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1884
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1921
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41695
bin: 9.75e1
variant carriers: 415

European (Finnish)
type: Population
allele count: 156
allele frequency: 2.362204724409449e-2
allele num: 6604
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9966
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.142506142506142e-4
allele num: 11396
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.530973451327434e-3
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 63
allele frequency: 9.492812584757255e-4
allele num: 66366
num of homozygotes: 0

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

South Asian
type: Population
allele count: 186
allele frequency: 1.129051839261867e-2
allele num: 16474
num of homozygotes: 1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.122e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

FS
type: SiteQuality
SIO_000300: 5.21e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 3.304152e6

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

QD
type: SiteQuality
SIO_000300: 1.342e1

VQSLOD
type: SiteQuality
SIO_000300: 4.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.23e-1

GenotypeQuality
all individuals: 1930
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41601
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2539
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1895
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1435
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 4
allele frequency: 4.014452027298274e-4
allele num: 9964
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

QD
type: SiteQuality
SIO_000300: 1.512e1

MQ
type: SiteQuality
SIO_000300: 5.935e1

DP
type: SiteQuality
SIO_000300: 3.283353e6

FS
type: SiteQuality
SIO_000300: 1.109e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

GenotypeQuality
all individuals: 168
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1896
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41600
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 70
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2544
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2007
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6561
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1440
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.005227181342983e-4
allele num: 9948
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.54e0

QD
type: SiteQuality
SIO_000300: 1.293e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.683e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.6e-2

DP
type: SiteQuality
SIO_000300: 3.283376e6

FS
type: SiteQuality
SIO_000300: 1.912e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
all individuals: 1390
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6572
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2544
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41602
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 1898
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1439
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.958716287479283e-4
allele num: 66370
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
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: 16474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9948
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.24e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

DP
type: SiteQuality
SIO_000300: 3.283926e6

QD
type: SiteQuality
SIO_000300: 1.423e1

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2546
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41598
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1439
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1933
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6551
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2008
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1900
bin: 7.75e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 66366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9952
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.423e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 5.362e0

MQRankSum
type: SiteQuality
SIO_000300: 8.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.92e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.69e-1

DP
type: SiteQuality
SIO_000300: 3.28338e6

GenotypeQuality
all individuals: 2008
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1442
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6569
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1900
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 69
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41598
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66366
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.005429318318922e-4
allele num: 9946
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.604e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 3.283479e6

FS
type: SiteQuality
SIO_000300: 4.77e0

MQRankSum
type: SiteQuality
SIO_000300: 2.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.61e0

VQSLOD
type: SiteQuality
SIO_000300: -1.566e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.43e-1

GenotypeQuality
all individuals: 6627
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506296318611797e-5
allele num: 66388
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 5.449e0

DP
type: SiteQuality
SIO_000300: 3.28404e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.384e0

MQRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.26e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

QD
type: SiteQuality
SIO_000300: 1.248e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 1905
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.641218594489623e-4
allele num: 16478
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: 904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66404
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 5.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.259e0

QD
type: SiteQuality
SIO_000300: 1.144e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.82e-1

DP
type: SiteQuality
SIO_000300: 3.284691e6

GenotypeQuality
all individuals: 85
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6630
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 66404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.284691e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

QD
type: SiteQuality
SIO_000300: 1.144e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.16e-1

FS
type: SiteQuality
SIO_000300: 5.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.259e0

MQRankSum
type: SiteQuality
SIO_000300: 9.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

GenotypeQuality
all individuals: 1390
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2010
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
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variant carriers: 0

GenotypeQuality
all individuals: 609
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GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 6658
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variant carriers: 0

GenotypeQuality
all individuals: 74
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GenotypeQuality
all individuals: 1446
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1936
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41600
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2562
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1908
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.820830298616169e-4
allele num: 16476
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
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: 0
allele frequency: 0.0e0
allele num: 66412
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161170459823502e-4
allele num: 8612
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.332e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.278e1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 2.263e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

DP
type: SiteQuality
SIO_000300: 3.284745e6

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1447
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 115
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GenotypeQuality
all individuals: 30
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GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 44
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 40

GenotypeQuality
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bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 3.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

African
type: Population
allele count: 37
allele frequency: 3.723832528180354e-3
allele num: 9936
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.632964718272775e-4
allele num: 11394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66430
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.413e1

MQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

DP
type: SiteQuality
SIO_000300: 3.286779e6

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
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GenotypeQuality
all individuals: 1395
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GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 35
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9928
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505208019748329e-5
allele num: 66436
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.284861e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.268e0

MQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

FS
type: SiteQuality
SIO_000300: 1.665e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.982e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.51e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 2011
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.040322580645161e-4
allele num: 9920
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504936190705514e-5
allele num: 66448
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.285045e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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