21-34839359-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34839359
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34839359
    reference: chr 21
allele count: 2
allele frequency: 1.648614339647526e-5
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.170C>G
  hgvsp: ENSP00000397773.1:p.Ala57Gly
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.170C>G
  hgvsp: ENSP00000409942.1:p.Ala57Gly
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000474272
  gene symbol: TMEM50B
  hgvsc: ENST00000474272.1:n.84C>G
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+1735C>G
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.170C>G
  hgvsp: ENSP00000439768.2:p.Ala57Gly
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.170C>G
  hgvsp: ENSP00000387622.1:p.Ala57Gly
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-11746G>C
  variant of: http://identifiers.org/hgnc/5440
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19732
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4227
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2165
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala57Gly
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

21-34839376-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34839376
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34839376
    reference: chr 21
allele count: 3
allele frequency: 2.472921509471289e-5
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000474272
  gene symbol: TMEM50B
  hgvsc: ENST00000474272.1:n.67A>T
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.153A>T
  hgvsp: ENST00000432504.1:c.153A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.153A>T
  hgvsp: ENST00000442441.1:c.153A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.153A>T
  hgvsp: ENST00000420455.1:c.153A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.153A>T
  hgvsp: ENST00000542230.2:c.153A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-11729T>A
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+1718A>T
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro51Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

21-34839384-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34839384
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34839384
    reference: chr 21
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.145C>A
  hgvsp: ENSP00000409942.1:p.Pro49Thr
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-11721G>T
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.145C>A
  hgvsp: ENSP00000439768.2:p.Pro49Thr
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.145C>A
  hgvsp: ENSP00000387622.1:p.Pro49Thr
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.145C>A
  hgvsp: ENSP00000397773.1:p.Pro49Thr
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+1710C>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000474272
  gene symbol: TMEM50B
  hgvsc: ENST00000474272.1:n.59C>A
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro49Thr
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

21-34839393-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34839393
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34839393
    reference: chr 21
allele count: 2
allele frequency: 1.649049323065253e-5
allele num: 121282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.136G>C
  hgvsp: ENSP00000387622.1:p.Val46Leu
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.136G>C
  hgvsp: ENSP00000439768.2:p.Val46Leu
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-11712C>G
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+1701G>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.136G>C
  hgvsp: ENSP00000397773.1:p.Val46Leu
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.136G>C
  hgvsp: ENSP00000409942.1:p.Val46Leu
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000474272
  gene symbol: TMEM50B
  hgvsc: ENST00000474272.1:n.50G>C
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4225
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val46Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

21-34839395-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34839395
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34839395
    reference: chr 21
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-11710G>C
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.134C>G
  hgvsp: ENSP00000397773.1:p.Ala45Gly
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.134C>G
  hgvsp: ENSP00000387622.1:p.Ala45Gly
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.134C>G
  hgvsp: ENSP00000439768.2:p.Ala45Gly
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.134C>G
  hgvsp: ENSP00000409942.1:p.Ala45Gly
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000474272
  gene symbol: TMEM50B
  hgvsc: ENST00000474272.1:n.48C>G
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+1699C>G
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6759
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala45Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

21-34839397-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34839397
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34839397
    reference: chr 21
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.132A>T
  hgvsp: ENST00000542230.2:c.132A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.132A>T
  hgvsp: ENST00000420455.1:c.132A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.132A>T
  hgvsp: ENST00000432504.1:c.132A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.132A>T
  hgvsp: ENST00000442441.1:c.132A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+1697A>T
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000474272
  gene symbol: TMEM50B
  hgvsc: ENST00000474272.1:n.46A>T
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-11708T>A
  variant of: http://identifiers.org/hgnc/5440
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6757
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42542
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala44Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

21-34839400-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34839400
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34839400
    reference: chr 21
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+1694T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.129T>C
  hgvsp: ENST00000542230.2:c.129T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000474272
  gene symbol: TMEM50B
  hgvsc: ENST00000474272.1:n.43T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.129T>C
  hgvsp: ENST00000420455.1:c.129T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.129T>C
  hgvsp: ENST00000432504.1:c.129T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-11705A>G
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.129T>C
  hgvsp: ENST00000442441.1:c.129T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp43Asp
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

21-34839408-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34839408
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34839408
    reference: chr 21
allele count: 1
allele frequency: 8.254502831294471e-6
allele num: 121146
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.121A>G
  hgvsp: ENSP00000439768.2:p.Met41Val
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-11697T>C
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.121A>G
  hgvsp: ENSP00000409942.1:p.Met41Val
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000474272
  gene symbol: TMEM50B
  hgvsc: ENST00000474272.1:n.35A>G
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.121A>G
  hgvsp: ENSP00000387622.1:p.Met41Val
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+1686A>G
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.121A>G
  hgvsp: ENSP00000397773.1:p.Met41Val
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met41Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: DP

21-34839409-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34839409
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34839409
    reference: chr 21
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000474272
  gene symbol: TMEM50B
  hgvsc: ENST00000474272.1:n.34A>G
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.120A>G
  hgvsp: ENSP00000387622.1:p.Ile40Met
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.120A>G
  hgvsp: ENSP00000397773.1:p.Ile40Met
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+1685A>G
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.120A>G
  hgvsp: ENSP00000409942.1:p.Ile40Met
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.120A>G
  hgvsp: ENSP00000439768.2:p.Ile40Met
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-11696T>C
  variant of: http://identifiers.org/hgnc/5440
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4226
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile40Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD

21-34839410-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34839410
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34839410
    reference: chr 21
allele count: 1
allele frequency: 8.258593066085262e-6
allele num: 121086
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000474272
  gene symbol: TMEM50B
  hgvsc: ENST00000474272.1:n.33T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.119T>C
  hgvsp: ENSP00000409942.1:p.Ile40Thr
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.119T>C
  hgvsp: ENSP00000387622.1:p.Ile40Thr
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.119T>C
  hgvsp: ENSP00000439768.2:p.Ile40Thr
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+1684T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.119T>C
  hgvsp: ENSP00000397773.1:p.Ile40Thr
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-11695A>G
  variant of: http://identifiers.org/hgnc/5440
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27469
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6579
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile40Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

21-34839410-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34839410
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34839410
    reference: chr 21
allele count: 1
allele frequency: 8.258593066085262e-6
allele num: 121086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.119T>A
  hgvsp: ENSP00000409942.1:p.Ile40Lys
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-11695A>T
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.119T>A
  hgvsp: ENSP00000397773.1:p.Ile40Lys
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.119T>A
  hgvsp: ENSP00000439768.2:p.Ile40Lys
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000474272
  gene symbol: TMEM50B
  hgvsc: ENST00000474272.1:n.33T>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.119T>A
  hgvsp: ENSP00000387622.1:p.Ile40Lys
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+1684T>A
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile40Lys
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

21-34839411-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34839411
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34839411
    reference: chr 21
allele count: 61
allele frequency: 5.05938557494526e-4
allele num: 120568
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000474272
  gene symbol: TMEM50B
  hgvsc: ENST00000474272.1:n.32A>G
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.118A>G
  hgvsp: ENSP00000397773.1:p.Ile40Val
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+1683A>G
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.118A>G
  hgvsp: ENSP00000387622.1:p.Ile40Val
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.118A>G
  hgvsp: ENSP00000409942.1:p.Ile40Val
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-11694T>C
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.118A>G
  hgvsp: ENSP00000439768.2:p.Ile40Val
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27293
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 19780
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6190
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4154
  bin: 9.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 41242
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6421
  bin: 6.75e1
  variant carriers: 1
hgvs: p.Ile40Val
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/21-34839414-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34839414
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34839414
    reference: chr 21
allele count: 1987
allele frequency: 1.74396152225811e-2
allele num: 113936
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.115T>G
  hgvsp: ENSP00000439768.2:p.Trp39Gly
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.115T>G
  hgvsp: ENSP00000409942.1:p.Trp39Gly
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.115T>G
  hgvsp: ENSP00000387622.1:p.Trp39Gly
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.115T>G
  hgvsp: ENSP00000397773.1:p.Trp39Gly
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000474272
  gene symbol: TMEM50B
  hgvsc: ENST00000474272.1:n.29T>G
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-11691A>C
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+1680T>G
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 4.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 6.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 26133
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 3.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19043
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 9.75e1
  variant carriers: 1020
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 3.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 5924
  bin: 6.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 7.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 3101
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.75e1
  variant carriers: 12
hgvs: p.Trp39Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

21-34839422-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34839422
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34839422
    reference: chr 21
allele count: 1
allele frequency: 8.269246671628215e-6
allele num: 120930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.107C>T
  hgvsp: ENSP00000409942.1:p.Thr36Ile
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.107C>T
  hgvsp: ENSP00000387622.1:p.Thr36Ile
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000474272
  gene symbol: TMEM50B
  hgvsc: ENST00000474272.1:n.21C>T
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.107C>T
  hgvsp: ENSP00000439768.2:p.Thr36Ile
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.107C>T
  hgvsp: ENSP00000397773.1:p.Thr36Ile
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-11683G>A
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+1672C>T
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6628
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr36Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

21-34839448-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34839448
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34839448
    reference: chr 21
allele count: 2
allele frequency: 1.675041876046901e-5
allele num: 119400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+1646A>T
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.100-19A>T
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.100-19A>T
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.100-19A>T
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-11657T>A
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.100-19A>T
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37216
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3088
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

21-34839453-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34839453
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34839453
    reference: chr 21
allele count: 1
allele frequency: 8.40745909771149e-6
allele num: 118942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.100-24C>T
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.100-24C>T
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.100-24C>T
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+1641C>T
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-11652G>A
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.100-24C>T
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20026
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4063
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD

21-34839460-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34839460
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34839461
    reference: chr 21
allele count: 1
allele frequency: 8.437536914224e-6
allele num: 118518
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+1633dupT
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.100-32dupT
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-11641dupA
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.100-32dupT
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.100-32dupT
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.100-32dupT
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4320
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29943
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

21-34839460-TAAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34839460
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34839457
    reference: chr 21
allele count: 4
allele frequency: 3.3750147656896e-5
allele num: 118518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.100-34_100-32delTTT
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.100-34_100-32delTTT
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-11643_177-11641delAAA
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.100-34_100-32delTTT
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+1631_99+1633delTTT
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.100-34_100-32delTTT
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17349
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29943
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3455
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: TAAA
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

21-34839465-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34839465
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34839465
    reference: chr 21
allele count: 13
allele frequency: 1.10173226211058e-4
allele num: 117996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+1629G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-11640C>T
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.100-36G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.100-36G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.100-36G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.100-36G>A
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12941
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11042
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8991
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14584
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5995
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22645
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4429
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4323
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 2940
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

21-34839467-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34839467
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34839467
    reference: chr 21
allele count: 1
allele frequency: 8.494733265375467e-6
allele num: 117720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-11638C>T
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.100-38G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.100-38G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.100-38G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+1627G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.100-38G>A
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12901
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9008
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5118
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6010
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5697
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

21-34839471-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34839471
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34839471
    reference: chr 21
allele count: 1
allele frequency: 8.541606163623007e-6
allele num: 117074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.100-42G>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+1623G>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.100-42G>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.100-42G>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.100-42G>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-11634C>G
  variant of: http://identifiers.org/hgnc/5440
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15015
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3207
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6070
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2655
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5952
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/21-34839478-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34839478
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34839478
    reference: chr 21
allele count: 1
allele frequency: 8.645433482034789e-6
allele num: 115668
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.100-49T>G
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+1616T>G
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.100-49T>G
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-11627A>C
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.100-49T>G
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.100-49T>G
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8958
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8825
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10243
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6922
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3692
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3447
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

21-34839481-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34839481
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34839481
    reference: chr 21
allele count: 1
allele frequency: 8.785802143735723e-6
allele num: 113820
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+1613T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-11624A>G
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.100-52T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.100-52T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.100-52T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.100-52T>C
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8816
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14857
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6291
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5612
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6931
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4313
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6390
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

21-34841043-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841043
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841043
    reference: chr 21
allele count: 1
allele frequency: 8.274994621253496e-6
allele num: 120846
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.302G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.99+51G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+51G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.99+51G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.99+51G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.99+51G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-10062C>T
  variant of: http://identifiers.org/hgnc/5440
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4873
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15676
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3035
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

21-34841044-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841044
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841044
    reference: chr 21
allele count: 1
allele frequency: 8.277597510098669e-6
allele num: 120808
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.99+50G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.99+50G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.301G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.99+50G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+50G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-10061C>T
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.99+50G>A
  variant of: http://identifiers.org/hgnc/1280
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8200
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6872
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16749
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3209
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

21-34841046-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841046
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841046
    reference: chr 21
allele count: 4
allele frequency: 3.309340613882684e-5
allele num: 120870
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-10059G>A
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.99+48C>T
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.299C>T
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+48C>T
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.99+48C>T
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.99+48C>T
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.99+48C>T
  variant of: http://identifiers.org/hgnc/1280
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8193
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2997
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15636
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

21-34841055-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841055
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841055
    reference: chr 21
allele count: 1
allele frequency: 8.265555775970376e-6
allele num: 120984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.99+39C>T
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.290C>T
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-10050G>A
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.99+39C>T
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+39C>T
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.99+39C>T
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.99+39C>T
  variant of: http://identifiers.org/hgnc/1280
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12233
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4077
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18961
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

21-34841064-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841064
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841064
    reference: chr 21
allele count: 1
allele frequency: 8.260639703938672e-6
allele num: 121056
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.99+30T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+30T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.99+30T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-10041A>G
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.281T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.99+30T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.99+30T>C
  variant of: http://identifiers.org/hgnc/1280
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15589
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6945
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19728
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

21-34841066-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841066
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841066
    reference: chr 21
allele count: 2
allele frequency: 1.651364026686043e-5
allele num: 121112
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.99+28T>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.99+28T>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-10039A>T
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.99+28T>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.279T>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+28T>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.99+28T>A
  variant of: http://identifiers.org/hgnc/1280
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6953
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2947
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4750
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

21-34841077-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841077
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841077
    reference: chr 21
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.99+17G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-10028C>T
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.99+17G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.99+17G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.99+17G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.268G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+17G>A
  variant of: http://identifiers.org/hgnc/1280
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20440
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15585
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4086
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

21-34841089-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841089
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841089
    reference: chr 21
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.99+5G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.99+5G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.99+5G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.99+5G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.99+5G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.256G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-10016C>T
  variant of: http://identifiers.org/hgnc/5440
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12352
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15585
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4080
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4729
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2946
  bin: 7.25e1
  variant carriers: 0
hgvs: c.99+5G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum

21-34841100-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841100
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841100
    reference: chr 21
allele count: 5
allele frequency: 4.120584793393878e-5
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.93T>C
  hgvsp: ENST00000542230.2:c.93T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.93T>C
  hgvsp: ENST00000442441.1:c.93T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.93T>C
  hgvsp: ENST00000441128.1:c.93T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.93T>C
  hgvsp: ENST00000420455.1:c.93T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-10005A>G
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.93T>C
  hgvsp: ENST00000432504.1:c.93T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.245T>C
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8153
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15587
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4732
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly31Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS

21-34841105-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841105
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841105
    reference: chr 21
allele count: 2
allele frequency: 1.648125257519571e-5
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.88G>A
  hgvsp: ENSP00000387622.1:p.Ala30Thr
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.88G>A
  hgvsp: ENSP00000409942.1:p.Ala30Thr
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.88G>A
  hgvsp: ENSP00000397773.1:p.Ala30Thr
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-10000C>T
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.88G>A
  hgvsp: ENSP00000398859.1:p.Ala30Thr
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.88G>A
  hgvsp: ENSP00000439768.2:p.Ala30Thr
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.240G>A
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4733
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala30Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

21-34841106-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841106
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841106
    reference: chr 21
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.87C>T
  hgvsp: ENST00000420455.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.87C>T
  hgvsp: ENST00000442441.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.87C>T
  hgvsp: ENST00000542230.2:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.87C>T
  hgvsp: ENST00000432504.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.239C>T
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-9999G>A
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.87C>T
  hgvsp: ENST00000441128.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7009
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20966
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val29Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

21-34841106-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841106
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841106
    reference: chr 21
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.87C>G
  hgvsp: ENST00000441128.1:c.87C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.87C>G
  hgvsp: ENST00000542230.2:c.87C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.87C>G
  hgvsp: ENST00000420455.1:c.87C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.87C>G
  hgvsp: ENST00000442441.1:c.87C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-9999G>C
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.239C>G
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.87C>G
  hgvsp: ENST00000432504.1:c.87C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2950
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val29Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

21-34841107-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841107
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841107
    reference: chr 21
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.238T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-9998A>G
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.86T>C
  hgvsp: ENSP00000398859.1:p.Val29Ala
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.86T>C
  hgvsp: ENSP00000409942.1:p.Val29Ala
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.86T>C
  hgvsp: ENSP00000397773.1:p.Val29Ala
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.86T>C
  hgvsp: ENSP00000439768.2:p.Val29Ala
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.86T>C
  hgvsp: ENSP00000387622.1:p.Val29Ala
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5496
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15580
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20977
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4734
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val29Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

21-34841114-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841114
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841114
    reference: chr 21
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.79T>C
  hgvsp: ENSP00000409942.1:p.Ser27Pro
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.79T>C
  hgvsp: ENSP00000387622.1:p.Ser27Pro
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-9991A>G
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.231T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.79T>C
  hgvsp: ENSP00000397773.1:p.Ser27Pro
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.79T>C
  hgvsp: ENSP00000439768.2:p.Ser27Pro
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.79T>C
  hgvsp: ENSP00000398859.1:p.Ser27Pro
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20995
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4734
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7012
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser27Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

21-34841115-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841115
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841115
    reference: chr 21
allele count: 2
allele frequency: 1.647989452867502e-5
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.78A>T
  hgvsp: ENST00000432504.1:c.78A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.78A>T
  hgvsp: ENST00000420455.1:c.78A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.78A>T
  hgvsp: ENST00000542230.2:c.78A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.78A>T
  hgvsp: ENST00000441128.1:c.78A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.78A>T
  hgvsp: ENST00000442441.1:c.78A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.230A>T
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-9990T>A
  variant of: http://identifiers.org/hgnc/5440
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15579
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4084
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2953
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala26Ala
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

21-34841115-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841115
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841115
    reference: chr 21
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.78A>G
  hgvsp: ENST00000420455.1:c.78A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.230A>G
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.78A>G
  hgvsp: ENST00000542230.2:c.78A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-9990T>C
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.78A>G
  hgvsp: ENST00000441128.1:c.78A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.78A>G
  hgvsp: ENST00000432504.1:c.78A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.78A>G
  hgvsp: ENST00000442441.1:c.78A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4733
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7014
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4084
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala26Ala
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/21-34841120-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841120
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841121
    reference: chr 21
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.72dupT
  hgvsp: ENSP00000387622.1:p.Val25CysfsTer19
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.72dupT
  hgvsp: ENSP00000398859.1:p.Val25CysfsTer75
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.72dupT
  hgvsp: ENSP00000397773.1:p.Val25CysfsTer19
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.72dupT
  hgvsp: ENSP00000409942.1:p.Val25CysfsTer19
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-9984dupA
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.224dupT
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.72dupT
  hgvsp: ENSP00000439768.2:p.Val25CysfsTer19
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4084
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4732
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7012
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val25CysfsTer19
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

21-34841125-TTTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841125
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841122
    reference: chr 21
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.65_67delGAA
  hgvsp: ENSP00000439768.2:p.Arg22del
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.65_67delGAA
  hgvsp: ENSP00000398859.1:p.Arg22del
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.65_67delGAA
  hgvsp: ENSP00000397773.1:p.Arg22del
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.217_219delGAA
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.65_67delGAA
  hgvsp: ENSP00000387622.1:p.Arg22del
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.65_67delGAA
  hgvsp: ENSP00000409942.1:p.Arg22del
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-9975_177-9973delTCT
  variant of: http://identifiers.org/hgnc/5440
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4731
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15578
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2955
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4083
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg22del
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: TTTC
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

21-34841145-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841145
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841145
    reference: chr 21
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.48T>A
  hgvsp: ENST00000441128.1:c.48T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.48T>A
  hgvsp: ENST00000432504.1:c.48T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.48T>A
  hgvsp: ENST00000542230.2:c.48T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.48T>A
  hgvsp: ENST00000420455.1:c.48T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.200T>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.48T>A
  hgvsp: ENST00000442441.1:c.48T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-9960A>T
  variant of: http://identifiers.org/hgnc/5440
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4733
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21033
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile16Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

21-34841150-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841150
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841150
    reference: chr 21
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.43T>C
  hgvsp: ENSP00000397773.1:p.Cys15Arg
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-9955A>G
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.43T>C
  hgvsp: ENSP00000387622.1:p.Cys15Arg
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.43T>C
  hgvsp: ENSP00000409942.1:p.Cys15Arg
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.43T>C
  hgvsp: ENSP00000398859.1:p.Cys15Arg
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.195T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.43T>C
  hgvsp: ENSP00000439768.2:p.Cys15Arg
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2951
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4732
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys15Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

21-34841154-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841154
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841154
    reference: chr 21
allele count: 10
allele frequency: 8.238318064983853e-5
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.39T>C
  hgvsp: ENST00000432504.1:c.39T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.191T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.39T>C
  hgvsp: ENST00000542230.2:c.39T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.39T>C
  hgvsp: ENST00000420455.1:c.39T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.39T>C
  hgvsp: ENST00000442441.1:c.39T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.39T>C
  hgvsp: ENST00000441128.1:c.39T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-9951A>G
  variant of: http://identifiers.org/hgnc/5440
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys13Cys
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

21-34841164-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841164
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841164
    reference: chr 21
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.29G>A
  hgvsp: ENSP00000387622.1:p.Trp10Ter
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.29G>A
  hgvsp: ENSP00000439768.2:p.Trp10Ter
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.181G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-9941C>T
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.29G>A
  hgvsp: ENSP00000398859.1:p.Trp10Ter
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.29G>A
  hgvsp: ENSP00000409942.1:p.Trp10Ter
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.29G>A
  hgvsp: ENSP00000397773.1:p.Trp10Ter
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21009
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3174
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Trp10Ter
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ

21-34841166-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841166
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841166
    reference: chr 21
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.27T>C
  hgvsp: ENST00000420455.1:c.27T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.27T>C
  hgvsp: ENST00000432504.1:c.27T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.27T>C
  hgvsp: ENST00000441128.1:c.27T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.27T>C
  hgvsp: ENST00000442441.1:c.27T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.179T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.27T>C
  hgvsp: ENST00000542230.2:c.27T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-9939A>G
  variant of: http://identifiers.org/hgnc/5440
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4082
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg9Arg
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

21-34841167-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841167
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841167
    reference: chr 21
allele count: 5
allele frequency: 4.119973632168754e-5
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-9938C>T
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.26G>A
  hgvsp: ENSP00000398859.1:p.Arg9His
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.26G>A
  hgvsp: ENSP00000397773.1:p.Arg9His
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.26G>A
  hgvsp: ENSP00000439768.2:p.Arg9His
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.178G>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.26G>A
  hgvsp: ENSP00000387622.1:p.Arg9His
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.26G>A
  hgvsp: ENSP00000409942.1:p.Arg9His
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7010
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2951
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg9His
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

21-34841173-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841173
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841173
    reference: chr 21
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.20A>G
  hgvsp: ENSP00000398859.1:p.Asn7Ser
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.172A>G
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.20A>G
  hgvsp: ENSP00000439768.2:p.Asn7Ser
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-9932T>C
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.20A>G
  hgvsp: ENSP00000387622.1:p.Asn7Ser
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.20A>G
  hgvsp: ENSP00000409942.1:p.Asn7Ser
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.20A>G
  hgvsp: ENSP00000397773.1:p.Asn7Ser
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4733
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20978
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7006
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn7Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

21-34841184-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841184
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841184
    reference: chr 21
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.161C>G
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.9C>G
  hgvsp: ENST00000442441.1:c.9C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.9C>G
  hgvsp: ENST00000542230.2:c.9C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.9C>G
  hgvsp: ENST00000432504.1:c.9C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.9C>G
  hgvsp: ENST00000420455.1:c.9C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.9C>G
  hgvsp: ENST00000441128.1:c.9C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-9921G>C
  variant of: http://identifiers.org/hgnc/5440
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4728
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly3Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

21-34841205-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841205
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841205
    reference: chr 21
allele count: 2
allele frequency: 1.654588173003739e-5
allele num: 120876
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.-13T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.-13T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.-13T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.-13T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.-13T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-9900A>G
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.140T>C
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4070
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6870
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

21-34841224-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841224
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841224
    reference: chr 21
allele count: 1
allele frequency: 8.313381218409152e-6
allele num: 120288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000398859
  ensembl transcript: ENST00000441128
  gene symbol: TMEM50B
  hgvsc: ENST00000441128.1:c.-32T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.121T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.-32T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.-32T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.-32T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.-32T>C
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-9881A>G
  variant of: http://identifiers.org/hgnc/5440
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6377
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2086
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

21-34841235-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34841235
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34841236
    reference: chr 21
allele count: 2
allele frequency: 1.670090351888037e-5
allele num: 119754
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.-41-3dupT
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.-41-3dupT
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.112-3dupT
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.-41-3dupT
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-9869dupA
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.-41-3dupT
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11577
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5774
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 8.75e1
  variant carriers: 0
hgvs: c.-41-3dupT
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ

21-34851060-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34851060
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34851061
    reference: chr 21
allele count: 18
allele frequency: 1.196808510638298e-3
allele num: 15040
alternate allele: TA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.-42+1084dupT
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.-42+1084dupT
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.-42+1084dupT
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.111+1084dupT
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.-195+355dupT
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-36dupA
  variant of: http://identifiers.org/hgnc/5440
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

21-34851060-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34851060
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34851059
    reference: chr 21
allele count: 28
allele frequency: 1.861702127659575e-3
allele num: 15040
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.-42+1084delT
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.-195+355delT
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.-42+1084delT
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.111+1084delT
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.-42+1084delT
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-36delA
  variant of: http://identifiers.org/hgnc/5440
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: TA
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

21-34851061-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34851061
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34851061
    reference: chr 21
allele count: 2
allele frequency: 1.354829968838911e-4
allele num: 14762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.-42+1084T>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.111+1084T>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.-42+1084T>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-44A>T
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.-42+1084T>A
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.-195+355T>A
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

21-34851073-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34851073
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34851072
    reference: chr 21
allele count: 1
allele frequency: 6.317119393556538e-5
allele num: 15830
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.-42+1071delT
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.-42+1071delT
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.111+1071delT
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.-195+342delT
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-30delA
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.-42+1071delT
  variant of: http://identifiers.org/hgnc/1280
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: TA
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

21-34851076-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34851076
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34851076
    reference: chr 21
allele count: 8
allele frequency: 5.056250790039186e-4
allele num: 15822
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.-42+1069A>G
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.-195+340A>G
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.-42+1069A>G
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.111+1069A>G
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.-42+1069A>G
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.177-29T>C
  variant of: http://identifiers.org/hgnc/5440
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3446
  bin: 9.75e1
  variant carriers: 7
num of homozygotes: 1
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

21-34851105-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34851105
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34851104
    reference: chr 21
allele count: 3
allele frequency: 1.893700290367378e-4
allele num: 15842
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.180delT
  hgvsp: ENSP00000402629.1:p.Ter61Lys
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.-42+1039delA
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.111+1039delA
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.-42+1039delA
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.-42+1039delA
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.-195+310delA
  variant of: http://identifiers.org/hgnc/1280
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ter61Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: GT
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

21-34851149-TGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34851149
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34851147
    reference: chr 21
allele count: 1
allele frequency: 6.29643621710112e-5
allele num: 15882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000409942
  ensembl transcript: ENST00000442441
  gene symbol: TMEM50B
  hgvsc: ENST00000442441.1:c.-42+994_-42+995delTC
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000439768
  ensembl transcript: ENST00000542230
  gene symbol: TMEM50B
  hgvsc: ENST00000542230.2:c.-42+994_-42+995delTC
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000387622
  ensembl transcript: ENST00000432504
  gene symbol: TMEM50B
  hgvsc: ENST00000432504.1:c.-195+265_-195+266delTC
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000159128
  ensembl protein: ENSP00000402629
  ensembl transcript: ENST00000421802
  gene symbol: IFNGR2
  hgvsc: ENST00000421802.1:c.*43_*44delAG
  variant of: http://identifiers.org/hgnc/5440
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl protein: ENSP00000397773
  ensembl transcript: ENST00000420455
  gene symbol: TMEM50B
  hgvsc: ENST00000420455.1:c.-42+994_-42+995delTC
  variant of: http://identifiers.org/hgnc/1280
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142188
  ensembl transcript: ENST00000459909
  gene symbol: TMEM50B
  hgvsc: ENST00000459909.1:n.111+994_111+995delTC
  variant of: http://identifiers.org/hgnc/1280
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3451
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: TGA
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

21-34860486-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34860486
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34860485
    reference: chr 21
allele count: 1
allele frequency: 1.295873937383371e-5
allele num: 77168
alternate allele: T
canonical: true
consequence: upstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15462
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4056
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9780
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5627
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3575
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6526
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3771
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7138
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.649076517150396e-4
  allele num: 6064
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 616
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5836
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: TC
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

21-34860490-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34860490
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34860490
    reference: chr 21
allele count: 5
allele frequency: 6.458279514337381e-5
allele num: 77420
alternate allele: C
canonical: true
consequence: upstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15393
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11378
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4223
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3777
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4308
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7182
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6475
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5513
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2804
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6088
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 4
  allele frequency: 9.435742592942064e-5
  allele num: 42392
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8480
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5850
  num of homozygotes: 0
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP

21-34860496-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34860496
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34860496
    reference: chr 21
allele count: 2
allele frequency: 2.564760194921775e-5
allele num: 77980
alternate allele: A
canonical: true
consequence: upstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5870
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 622
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8514
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 1.45602795573675e-4
  allele num: 6868
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

21-34860498-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34860498
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34860498
    reference: chr 21
allele count: 1
allele frequency: 1.275770565421515e-5
allele num: 78384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177692
  ensembl protein: ENSP00000371373
  ensembl transcript: ENST00000381947
  gene symbol: DNAJC28
  hgvsc: ENST00000381947.3:c.*36C>G
  variant of: http://identifiers.org/hgnc/1297
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7324
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5876
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 1.449275362318841e-4
  allele num: 6900
  num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum

21-34860500-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34860500
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34860500
    reference: chr 21
allele count: 1
allele frequency: 1.27219988804641e-5
allele num: 78604
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177692
  ensembl protein: ENSP00000371373
  ensembl transcript: ENST00000381947
  gene symbol: DNAJC28
  hgvsc: ENST00000381947.3:c.*34G>A
  variant of: http://identifiers.org/hgnc/1297
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8544
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6154
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7348
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

21-34860510-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34860510
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34860510
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 81708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177692
  ensembl protein: ENSP00000371373
  ensembl transcript: ENST00000381947
  gene symbol: DNAJC28
  hgvsc: ENST00000381947.3:c.*24T>C
  variant of: http://identifiers.org/hgnc/1297
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
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  allele num: 7168
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5968
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7796
  num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

21-34860523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34860523
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34860523
    reference: chr 21
allele count: 2
allele frequency: 2.262443438914027e-5
allele num: 88400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177692
  ensembl protein: ENSP00000371373
  ensembl transcript: ENST00000381947
  gene symbol: DNAJC28
  hgvsc: ENST00000381947.3:c.*11C>T
  variant of: http://identifiers.org/hgnc/1297
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177692
  ensembl protein: ENSP00000320303
  ensembl transcript: ENST00000314399
  gene symbol: DNAJC28
  hgvsc: ENST00000314399.3:c.*11C>T
  variant of: http://identifiers.org/hgnc/1297
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10719
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3812
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3532
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8944
  num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

21-34860526-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34860526
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34860526
    reference: chr 21
allele count: 1
allele frequency: 1.107984133667206e-5
allele num: 90254
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177692
  ensembl protein: ENSP00000320303
  ensembl transcript: ENST00000314399
  gene symbol: DNAJC28
  hgvsc: ENST00000314399.3:c.*8T>C
  variant of: http://identifiers.org/hgnc/1297
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177692
  ensembl protein: ENSP00000371373
  ensembl transcript: ENST00000381947
  gene symbol: DNAJC28
  hgvsc: ENST00000381947.3:c.*8T>C
  variant of: http://identifiers.org/hgnc/1297
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000177692
  ensembl protein: ENSP00000385777
  ensembl transcript: ENST00000402202
  gene symbol: DNAJC28
  hgvsc: ENST00000402202.1:c.*8T>C
  variant of: http://identifiers.org/hgnc/1297
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27257
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3818
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9988
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4092
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25630
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

21-34860533-ATCAAAATGATCGTATTTTAATAAATTTCCACAGATTCATCCAGTTTAAAAAACCTTTCTTGATTTCAGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34860533
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34860464
    reference: chr 21
allele count: 14
allele frequency: 1.475641376984211e-4
allele num: 94874
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: stop_lost
  ensembl gene: ENSG00000177692
  ensembl protein: ENSP00000371373
  ensembl transcript: ENST00000381947
  gene symbol: DNAJC28
  variant of: http://identifiers.org/hgnc/1297
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  consequence: stop_lost
  ensembl gene: ENSG00000177692
  ensembl protein: ENSP00000320303
  ensembl transcript: ENST00000314399
  gene symbol: DNAJC28
  variant of: http://identifiers.org/hgnc/1297
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: stop_lost
  ensembl gene: ENSG00000177692
  ensembl protein: ENSP00000385777
  ensembl transcript: ENST00000402202
  gene symbol: DNAJC28
  variant of: http://identifiers.org/hgnc/1297
canonical: true
consequence: stop lost
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8058
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28407
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3986
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4119
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3838
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: ATCAAAATGATCGTATTTTAATAAATTTCCACAGATTCATCCAGTTTAAAAAACCTTTCTTGATTTCAGG
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

21-34860544-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34860544
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34860544
    reference: chr 21
allele count: 1
allele frequency: 9.946685764303334e-6
allele num: 100536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177692
  ensembl protein: ENSP00000371373
  ensembl transcript: ENST00000381947
  gene symbol: DNAJC28
  hgvsc: ENST00000381947.3:c.1157G>A
  hgvsp: ENSP00000371373.3:p.Arg386Gln
  variant of: http://identifiers.org/hgnc/1297
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177692
  ensembl protein: ENSP00000320303
  ensembl transcript: ENST00000314399
  gene symbol: DNAJC28
  hgvsc: ENST00000314399.3:c.1157G>A
  hgvsp: ENSP00000320303.3:p.Arg386Gln
  variant of: http://identifiers.org/hgnc/1297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177692
  ensembl protein: ENSP00000385777
  ensembl transcript: ENST00000402202
  gene symbol: DNAJC28
  hgvsc: ENST00000402202.1:c.1157G>A
  hgvsp: ENSP00000385777.1:p.Arg386Gln
  variant of: http://identifiers.org/hgnc/1297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5862
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3842
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4501
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3736
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg386Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

21-34860545-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34860545
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34860545
    reference: chr 21
allele count: 5
allele frequency: 4.943838000316406e-5
allele num: 101136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000177692
  ensembl protein: ENSP00000371373
  ensembl transcript: ENST00000381947
  gene symbol: DNAJC28
  hgvsc: ENST00000381947.3:c.1156C>T
  hgvsp: ENSP00000371373.3:p.Arg386Ter
  variant of: http://identifiers.org/hgnc/1297
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000177692
  ensembl protein: ENSP00000320303
  ensembl transcript: ENST00000314399
  gene symbol: DNAJC28
  hgvsc: ENST00000314399.3:c.1156C>T
  hgvsp: ENSP00000320303.3:p.Arg386Ter
  variant of: http://identifiers.org/hgnc/1297
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000177692
  ensembl protein: ENSP00000385777
  ensembl transcript: ENST00000402202
  gene symbol: DNAJC28
  hgvsc: ENST00000402202.1:c.1156C>T
  hgvsp: ENSP00000385777.1:p.Arg386Ter
  variant of: http://identifiers.org/hgnc/1297
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3852
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4558
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32965
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3695
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5690
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg386Ter
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

21-34860546-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34860546
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34860546
    reference: chr 21
allele count: 1
allele frequency: 9.831681610822715e-6
allele num: 101712
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177692
  ensembl protein: ENSP00000371373
  ensembl transcript: ENST00000381947
  gene symbol: DNAJC28
  hgvsc: ENST00000381947.3:c.1155A>G
  hgvsp: ENSP00000371373.3:p.Ile385Met
  variant of: http://identifiers.org/hgnc/1297
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177692
  ensembl protein: ENSP00000320303
  ensembl transcript: ENST00000314399
  gene symbol: DNAJC28
  hgvsc: ENST00000314399.3:c.1155A>G
  hgvsp: ENSP00000320303.3:p.Ile385Met
  variant of: http://identifiers.org/hgnc/1297
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177692
  ensembl protein: ENSP00000385777
  ensembl transcript: ENST00000402202
  gene symbol: DNAJC28
  hgvsc: ENST00000402202.1:c.1155A>G
  hgvsp: ENSP00000385777.1:p.Ile385Met
  variant of: http://identifiers.org/hgnc/1297
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5531
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3621
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4624
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33361
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3855
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile385Met
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

21-34860554-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34860554
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34860553
    reference: chr 21
allele count: 1
allele frequency: 9.584787026032282e-6
allele num: 104332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000177692
  ensembl protein: ENSP00000371373
  ensembl transcript: ENST00000381947
  gene symbol: DNAJC28
  hgvsc: ENST00000381947.3:c.1146delT
  hgvsp: ENSP00000371373.3:p.Phe382LeufsTer?
  variant of: http://identifiers.org/hgnc/1297
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000177692
  ensembl protein: ENSP00000385777
  ensembl transcript: ENST00000402202
  gene symbol: DNAJC28
  hgvsc: ENST00000402202.1:c.1146delT
  hgvsp: ENSP00000385777.1:p.Phe382LeufsTer?
  variant of: http://identifiers.org/hgnc/1297
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000177692
  ensembl protein: ENSP00000320303
  ensembl transcript: ENST00000314399
  gene symbol: DNAJC28
  hgvsc: ENST00000314399.3:c.1146delT
  hgvsp: ENSP00000320303.3:p.Phe382LeufsTer?
  variant of: http://identifiers.org/hgnc/1297
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4797
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3218
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4675
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3859
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34933
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Phe382LeufsTer?
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: TA
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

21-34860558-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34860558
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 34860558
    reference: chr 21
allele count: 1
allele frequency: 9.499563020101076e-6
allele num: 105268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177692
  ensembl protein: ENSP00000371373
  ensembl transcript: ENST00000381947
  gene symbol: DNAJC28
  hgvsc: ENST00000381947.3:c.1143A>G
  hgvsp: ENST00000381947.3:c.1143A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1297
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177692
  ensembl protein: ENSP00000320303
  ensembl transcript: ENST00000314399
  gene symbol: DNAJC28
  hgvsc: ENST00000314399.3:c.1143A>G
  hgvsp: ENST00000314399.3:c.1143A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1297
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177692
  ensembl protein: ENSP00000385777
  ensembl transcript: ENST00000402202
  gene symbol: DNAJC28
  hgvsc: ENST00000402202.1:c.1143A>G
  hgvsp: ENST00000402202.1:c.1143A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1297
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3866
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35208
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4424
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4874
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys381Lys
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 59
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1938
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1356
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42804
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6775
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.924187030979411e-4
allele num: 10394
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.253e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.594e0

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 1.678e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

DP
type: SiteQuality
SIO_000300: 1.712714e6

VQSLOD
type: SiteQuality
SIO_000300: 8.41e-1

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

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6777
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2153
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42800
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1940
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4227
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1355
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
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VQSLOD
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QD
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MQ
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InbreedingCoeff
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DP
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: -7.7e-1

MQRankSum
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BaseQRankSum
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FS
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SIO_000300: 4.184e0

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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African
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allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: -2.0e-4

ReadPosRankSum
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MQ
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DP
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BaseQRankSum
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SIO_000300: -2.002e0

ClippingRankSum
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FS
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SIO_000300: 4.939e0

MQRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66672
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Latino
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6610
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 1.923816852635629e-4
allele num: 10396
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South Asian
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allele frequency: 0.0e0
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MQRankSum
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DP
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BaseQRankSum
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SIO_000300: -4.55e-1

ReadPosRankSum
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FS
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VQSLOD
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
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SIO_000300: 5.928e1

QD
type: SiteQuality
SIO_000300: 1.198e1

ClippingRankSum
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SIO_000300: 1.83e0

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

African
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allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

Latino
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South Asian
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InbreedingCoeff
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DP
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MQ
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SIO_000300: 5.956e1

FS
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ClippingRankSum
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BaseQRankSum
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.72e-1

QD
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SIO_000300: 8.619999999999999e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

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

Latino
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allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.711326e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

FS
type: SiteQuality
SIO_000300: 1.0098e1

VQSLOD
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ClippingRankSum
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SIO_000300: -1.965e0

BaseQRankSum
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SIO_000300: -4.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.88e-1

MQRankSum
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SIO_000300: -1.66e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

QD
type: SiteQuality
SIO_000300: 1.197e1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66656
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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African
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South Asian
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allele frequency: 6.062075654704171e-5
allele num: 16496
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQRankSum
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MQ
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FS
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BaseQRankSum
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QD
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DP
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

East Asian
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allele num: 8626
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 1.515610791148833e-4
allele num: 6598
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Other
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South Asian
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InbreedingCoeff
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VQSLOD
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FS
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QD
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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African
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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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allele frequency: 1.501681883709755e-5
allele num: 66592
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Other
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MQ
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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FS
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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African
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East Asian
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Latino
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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QD
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DP
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MQ
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VQSLOD
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ReadPosRankSum
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

African
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Latino
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European (Finnish)
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European (Non-Finnish)
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East Asian
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South Asian
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ReadPosRankSum
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DP
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MQRankSum
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FS
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InbreedingCoeff
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MQ
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BaseQRankSum
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QD
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 759
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 516
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 283
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1322
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 178
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1844
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 365
bin: 2.25e1
variant carriers: 4

GenotypeQuality
all individuals: 343
bin: 5.25e1
variant carriers: 2

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

Other
type: Population
allele count: 2
allele frequency: 2.217294900221729e-3
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.939111886755866e-4
allele num: 10314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 40
allele frequency: 6.242197253433208e-3
allele num: 6408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.26053408885406e-4
allele num: 66356
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.55492e2

MQ
type: SiteQuality
SIO_000300: 5.766e1

VQSLOD
type: SiteQuality
SIO_000300: -1.111e2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

DP
type: SiteQuality
SIO_000300: 1.71289e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.898e0

MQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

QD
type: SiteQuality
SIO_000300: 4.4e0

GenotypeQuality
all individuals: 194
bin: 3.25e1
variant carriers: 8

GenotypeQuality
all individuals: 91
bin: 1.75e1
variant carriers: 7

GenotypeQuality
all individuals: 445
bin: 9.25e1
variant carriers: 8

GenotypeQuality
all individuals: 208
bin: 4.25e1
variant carriers: 10

GenotypeQuality
all individuals: 364
bin: 2.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1577
bin: 7.25e1
variant carriers: 10

GenotypeQuality
all individuals: 40123
bin: 6.25e1
variant carriers: 18

GenotypeQuality
all individuals: 4008
bin: 9.75e1
variant carriers: 1832

GenotypeQuality
all individuals: 340
bin: 8.75e1
variant carriers: 7

GenotypeQuality
all individuals: 184
bin: 2.75e1
variant carriers: 7

GenotypeQuality
all individuals: 980
bin: 8.25e1
variant carriers: 9

East Asian
type: Population
allele count: 119
allele frequency: 1.43719806763285e-2
allele num: 8280
num of homozygotes: 0

Latino
type: Population
allele count: 64
allele frequency: 5.706134094151213e-3
allele num: 11216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1156
allele frequency: 1.855478154794389e-2
allele num: 62302
num of homozygotes: 0

Other
type: Population
allele count: 24
allele frequency: 2.941176470588235e-2
allele num: 816
num of homozygotes: 0

South Asian
type: Population
allele count: 42
allele frequency: 2.562538133007932e-3
allele num: 16390
num of homozygotes: 0

African
type: Population
allele count: 286
allele frequency: 3.090555435487357e-2
allele num: 9254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 296
allele frequency: 5.213103205353998e-2
allele num: 5678
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.965e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.705e0

DP
type: SiteQuality
SIO_000300: 1.999098e6

FS
type: SiteQuality
SIO_000300: 2.49184e2

MQ
type: SiteQuality
SIO_000300: 5.922e1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.85e-2

QD
type: SiteQuality
SIO_000300: 3.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.347e0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1971
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42656
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4341
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503262078710802e-5
allele num: 66522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 16438
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

MQ
type: SiteQuality
SIO_000300: 5.915e1

FS
type: SiteQuality
SIO_000300: 1.042e0

QD
type: SiteQuality
SIO_000300: 1.115e1

DP
type: SiteQuality
SIO_000300: 1.812203e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.763e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.79e-1

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5973
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4327
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1201
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1714
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.227445685528415e-4
allele num: 16294
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: 65596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 3.041e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

DP
type: SiteQuality
SIO_000300: 1.751954e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.35e-2

QD
type: SiteQuality
SIO_000300: 1.13e1

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

GenotypeQuality
all individuals: 5777
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34727
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1415
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1174
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4321
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 467
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 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: 1
allele frequency: 1.531112199902009e-5
allele num: 65312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16256
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.72449e6

QD
type: SiteQuality
SIO_000300: 1.007e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.168e0

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
all individuals: 3455
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5076
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2397
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1556
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1735
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.193887297039159e-4
allele num: 8376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65072
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16214
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11250
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

DP
type: SiteQuality
SIO_000300: 1.671594e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.359e0

MQ
type: SiteQuality
SIO_000300: 5.537e1

VQSLOD
type: SiteQuality
SIO_000300: 4.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.648e0

QD
type: SiteQuality
SIO_000300: 1.594e1

GenotypeQuality
all individuals: 5076
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2237
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2397
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1556
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4320
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 359
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.073518564052127e-5
allele num: 65072
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.777777777777778e-4
allele num: 11250
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16214
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.537e1

VQSLOD
type: SiteQuality
SIO_000300: 4.47e0

MQRankSum
type: SiteQuality
SIO_000300: -1.359e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.648e0

QD
type: SiteQuality
SIO_000300: 1.594e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

DP
type: SiteQuality
SIO_000300: 1.671594e6

GenotypeQuality
all individuals: 802
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1463
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5290
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4390
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1496
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.698369565217391e-4
allele num: 64768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.787949222242088e-4
allele num: 11186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 1.610872e6

FS
type: SiteQuality
SIO_000300: 5.851e0

QD
type: SiteQuality
SIO_000300: 1.239e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.163e0

GenotypeQuality
all individuals: 3066
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4311
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1064
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1996
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.968609865470852e-5
allele num: 11150
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64586
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.41e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

MQRankSum
type: SiteQuality
SIO_000300: -7.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 1.845e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.78e-1

DP
type: SiteQuality
SIO_000300: 1.593483e6

VQSLOD
type: SiteQuality
SIO_000300: 1.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.285e0

QD
type: SiteQuality
SIO_000300: 1.264e1

GenotypeQuality
all individuals: 369
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2887
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18158
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4310
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 104
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3891
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5972
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.557972143458075e-5
allele num: 64186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.476e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: 2.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.165e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.567814e6

MQRankSum
type: SiteQuality
SIO_000300: -1.231e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 1.242e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

GenotypeQuality
all individuals: 5962
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 458
bin: 8.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10000
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15964
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10866
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.579479403588577e-5
allele num: 63312
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.38e0

DP
type: SiteQuality
SIO_000300: 1.536663e6

VQSLOD
type: SiteQuality
SIO_000300: 3.56e-1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQ
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SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

QD
type: SiteQuality
SIO_000300: 1.138e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.53e-1

GenotypeQuality
all individuals: 1272
bin: 7.25e1
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: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.607200257152041e-5
allele num: 62220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10648
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15792
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7956
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9884
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

FS
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -1.846e0

DP
type: SiteQuality
SIO_000300: 1.533762e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e0

MQ
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SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.12e0

QD
type: SiteQuality
SIO_000300: 1.29e1

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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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16272
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

African
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
allele num: 904
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66484
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.624e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.903e1

VQSLOD
type: SiteQuality
SIO_000300: -2.495e0

MQRankSum
type: SiteQuality
SIO_000300: 9.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.256e0

DP
type: SiteQuality
SIO_000300: 2.248049e6

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
all individuals: 439
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

European (Finnish)
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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: 16228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66500
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.44e-1

DP
type: SiteQuality
SIO_000300: 2.24814e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.55e-1

QD
type: SiteQuality
SIO_000300: 1.249e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-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
all individuals: 3200
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GenotypeQuality
all individuals: 179
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.014133213050669e-5
allele num: 66510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.248e0

VQSLOD
type: SiteQuality
SIO_000300: 9.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.97e-1

FS
type: SiteQuality
SIO_000300: 1.575e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

QD
type: SiteQuality
SIO_000300: 1.32e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.99e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.54e-1

DP
type: SiteQuality
SIO_000300: 2.248544e6

GenotypeQuality
all individuals: 421
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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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bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
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: 11554
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502674761074713e-5
allele num: 66548
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: 904
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.87e-1

QD
type: SiteQuality
SIO_000300: 1.398e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.848e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-2

DP
type: SiteQuality
SIO_000300: 2.25466e6

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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bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502042778178322e-5
allele num: 66576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.941e0

DP
type: SiteQuality
SIO_000300: 2.261417e6

QD
type: SiteQuality
SIO_000300: 1.595e1

BaseQRankSum
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

VQSLOD
type: SiteQuality
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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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variant carriers: 2

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002912825440678e-5
allele num: 66602
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10388
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

FS
type: SiteQuality
SIO_000300: 2.695e0

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

DP
type: SiteQuality
SIO_000300: 2.263122e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.37e-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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variant carriers: 0

East Asian
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allele num: 8652
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
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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: 906
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.05e-1

QD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.566e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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SIO_000300: 6.0e1

QD
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BaseQRankSum
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SIO_000300: -4.227e0

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

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

Latino
type: Population
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allele frequency: 2.593360995850622e-4
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998410842253606e-5
allele num: 66702
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQ
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QD
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DP
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.43e0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.92e-1

FS
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SIO_000300: 1.273e0

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

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

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

Latino
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allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

FS
type: SiteQuality
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DP
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -9.96e-1

QD
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MQ
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SIO_000300: 5.978e1

MQRankSum
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SIO_000300: 4.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.98e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 6612
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African
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allele frequency: 0.0e0
allele num: 10398
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66710
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Latino
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allele frequency: 0.0e0
allele num: 11568
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East Asian
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num of homozygotes: 0

South Asian
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 4.07e-1

QD
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.0e-4

MQ
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 2.274129e6

MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.28e-1

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
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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

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

Other
type: Population
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

FS
type: SiteQuality
SIO_000300: 4.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.28e-1

InbreedingCoeff
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SIO_000300: 1.0e-4

BaseQRankSum
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.274129e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

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

Latino
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.984e1

FS
type: SiteQuality
SIO_000300: 1.0254e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

MQRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 16506
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 (Non-Finnish)
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allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

FS
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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QD
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InbreedingCoeff
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MQRankSum
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DP
type: SiteQuality
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ClippingRankSum
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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Other
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allele num: 908
num of homozygotes: 0

Latino
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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South Asian
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QD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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DP
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FS
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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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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variant carriers: 0

Other
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num of homozygotes: 0

Latino
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South Asian
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European (Non-Finnish)
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African
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East Asian
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European (Finnish)
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VQSLOD
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FS
type: SiteQuality
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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DP
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MQ
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ClippingRankSum
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QD
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
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Other
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East Asian
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South Asian
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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FS
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QD
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BaseQRankSum
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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InbreedingCoeff
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MQRankSum
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MQ
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QD
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ClippingRankSum
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ReadPosRankSum
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FS
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VQSLOD
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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Other
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European (Finnish)
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African
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East Asian
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QD
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ClippingRankSum
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VQSLOD
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MQRankSum
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MQ
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BaseQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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Other
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Latino
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East Asian
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QD
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DP
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Other
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South Asian
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European (Finnish)
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European (Non-Finnish)
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ClippingRankSum
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DP
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MQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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FS
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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East Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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VQSLOD
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FS
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DP
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Latino
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East Asian
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ClippingRankSum
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FS
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BaseQRankSum
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MQ
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QD
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VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Non-Finnish)
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Other
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European (Finnish)
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East Asian
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Latino
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MQRankSum
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VQSLOD
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BaseQRankSum
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FS
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MQ
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QD
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DP
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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South Asian
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African
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Other
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Latino
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European (Non-Finnish)
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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FS
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VQSLOD
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MQ
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QD
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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African
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East Asian
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Latino
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European (Finnish)
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DP
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FS
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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MQRankSum
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QD
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InbreedingCoeff
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3171
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
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: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66494
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.05e-1

DP
type: SiteQuality
SIO_000300: 2.256986e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

QD
type: SiteQuality
SIO_000300: 1.6e1

FS
type: SiteQuality
SIO_000300: 8.88e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e0

VQSLOD
type: SiteQuality
SIO_000300: -2.62e-1

GenotypeQuality
all individuals: 1562
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4025
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 80
bin: 7.5e0
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GenotypeQuality
all individuals: 359
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4599
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16398
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15544
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3156
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510984859931704e-5
allele num: 66182
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.11e0

DP
type: SiteQuality
SIO_000300: 2.206595e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

QD
type: SiteQuality
SIO_000300: 1.528e1

GenotypeQuality
all individuals: 106
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12228
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2692
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3970
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4417
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3148
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15530
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2277
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16256
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65924
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.744287458573173e-4
allele num: 11466
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.46e-1

DP
type: SiteQuality
SIO_000300: 2.159737e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.706e1

MQ
type: SiteQuality
SIO_000300: 6.037e1

GenotypeQuality
all individuals: 173
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 429
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 446
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2927
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 312
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 6.180469715698393e-4
allele num: 1618
num of homozygotes: 0

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

African
type: Population
allele count: 14
allele frequency: 1.912568306010929e-2
allele num: 732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.310344827586207e-4
allele num: 4640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.383891502906172e-4
allele num: 7226
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.31e-2

FS
type: SiteQuality
SIO_000300: 7.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

QD
type: SiteQuality
SIO_000300: 3.4e0

DP
type: SiteQuality
SIO_000300: 3.28698e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 247
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 610
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 297
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 118
bin: 1.25e1
variant carriers: 9

GenotypeQuality
all individuals: 2927
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 446
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 205
bin: 4.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 3.663793103448276e-3
allele num: 4640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1618
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 5.10204081632653e-3
allele num: 196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 4.807692307692308e-3
allele num: 416
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.73224043715847e-3
allele num: 732
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 8.303349017437033e-4
allele num: 7226
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.36e0

QD
type: SiteQuality
SIO_000300: 3.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.21e-1

DP
type: SiteQuality
SIO_000300: 3.28698e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.31e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

GenotypeQuality
all individuals: 106
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2900
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.420866489832007e-4
allele num: 4524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7126
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.56e-2

MQ
type: SiteQuality
SIO_000300: 5.946e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

DP
type: SiteQuality
SIO_000300: 3.26225e5

ClippingRankSum
type: SiteQuality
SIO_000300: -9.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.3e-2

QD
type: SiteQuality
SIO_000300: 1.02e1

GenotypeQuality
all individuals: 404
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 910
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3444
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 388
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4988
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.316482359136387e-4
allele num: 7596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1622
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.02e-1

QD
type: SiteQuality
SIO_000300: 1.669e1

MQRankSum
type: SiteQuality
SIO_000300: -1.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.123e0

MQ
type: SiteQuality
SIO_000300: 6.136e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.2e-2

FS
type: SiteQuality
SIO_000300: 2.213e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.66e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.24e0

DP
type: SiteQuality
SIO_000300: 3.31376e5

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

GenotypeQuality
all individuals: 121
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 1.053463260468791e-3
allele num: 7594
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1622
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.31903e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

QD
type: SiteQuality
SIO_000300: 1.521e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 2.014e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.36e-2

MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeQuality
all individuals: 148
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3449
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 548
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1618
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.948407475651487e-4
allele num: 7598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5000
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.47e-2

QD
type: SiteQuality
SIO_000300: 1.109e1

FS
type: SiteQuality
SIO_000300: 1.001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.41e-1

DP
type: SiteQuality
SIO_000300: 3.33463e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.14e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

GenotypeQuality
all individuals: 106
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 517
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5008
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.314405888538381e-4
allele num: 7608
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.704e0

VQSLOD
type: SiteQuality
SIO_000300: 3.56e-1

QD
type: SiteQuality
SIO_000300: 1.879e1

MQRankSum
type: SiteQuality
SIO_000300: 8.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-2

FS
type: SiteQuality
SIO_000300: 4.148e0

DP
type: SiteQuality
SIO_000300: 3.35278e5

MQ
type: SiteQuality
SIO_000300: 5.925e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.015e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42230
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.806e1

MQ
type: SiteQuality
SIO_000300: 6.077e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.78e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.36e-1

DP
type: SiteQuality
SIO_000300: 9.81887e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.3e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.394311210262131e-4
allele num: 7172
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6818
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.073e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

QD
type: SiteQuality
SIO_000300: 1.418e1

FS
type: SiteQuality
SIO_000300: 9.220000000000001e0

DP
type: SiteQuality
SIO_000300: 9.97393e5

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.339400177794414e-5
allele num: 42746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6108
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.076e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.141e0

VQSLOD
type: SiteQuality
SIO_000300: 8.6e-1

DP
type: SiteQuality
SIO_000300: 1.027251e6

QD
type: SiteQuality
SIO_000300: 1.317e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6138
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42992
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.909e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

QD
type: SiteQuality
SIO_000300: 7.04e0

DP
type: SiteQuality
SIO_000300: 1.038445e6

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6904
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.317926846228733e-5
allele num: 43142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5888
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-1

DP
type: SiteQuality
SIO_000300: 1.050294e6

VQSLOD
type: SiteQuality
SIO_000300: -8.409e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

FS
type: SiteQuality
SIO_000300: 3.813e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.346e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

QD
type: SiteQuality
SIO_000300: 1.789e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8726
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45016
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.395e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.149e0

DP
type: SiteQuality
SIO_000300: 1.12322e6

QD
type: SiteQuality
SIO_000300: 9.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

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

East Asian
type: Population
allele count: 1
allele frequency: 1.446340757882557e-4
allele num: 6914
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.322401481089659e-4
allele num: 7562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49030
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.095e0

DP
type: SiteQuality
SIO_000300: 1.231427e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.225e0

QD
type: SiteQuality
SIO_000300: 1.172e1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
all individuals: 1131
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9144
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.41282848262221e-4
allele num: 7078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9242
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.22e-1

MQ
type: SiteQuality
SIO_000300: 5.871e1

VQSLOD
type: SiteQuality
SIO_000300: -1.024e0

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

FS
type: SiteQuality
SIO_000300: 5.68e0

QD
type: SiteQuality
SIO_000300: 1.204e1

DP
type: SiteQuality
SIO_000300: 1.25417e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-1

GenotypeQuality
all individuals: 1458
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 14
allele frequency: 1.502145922746781e-3
allele num: 9320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8016
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.93e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.322e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

FS
type: SiteQuality
SIO_000300: 1.9345e1

MQ
type: SiteQuality
SIO_000300: 5.451e1

DP
type: SiteQuality
SIO_000300: 1.309984e6

QD
type: SiteQuality
SIO_000300: 3.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

GenotypeQuality
all individuals: 32572
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7812
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.753094211282914e-5
allele num: 57042
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.220000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.53e-1

FS
type: SiteQuality
SIO_000300: 1.937e0

MQ
type: SiteQuality
SIO_000300: 5.887e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.071e0

DP
type: SiteQuality
SIO_000300: 1.378348e6

VQSLOD
type: SiteQuality
SIO_000300: -9.095e-1

GenotypeQuality
all individuals: 227
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.545176889793841e-4
allele num: 7858
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.05241001894338e-4
allele num: 9502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.740522853065061e-5
allele num: 57454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10694
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.336898395721925e-3
allele num: 748
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.665e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.69e0

VQSLOD
type: SiteQuality
SIO_000300: 2.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

DP
type: SiteQuality
SIO_000300: 1.38625e6

GenotypeQuality
all individuals: 603
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.050199537912203e-4
allele num: 9522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7892
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57864
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10758
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.392455e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.589e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

GenotypeQuality
all individuals: 717
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8066
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9608
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 9.067827348567283e-5
allele num: 11028
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59688
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.424236e6

MQ
type: SiteQuality
SIO_000300: 5.93e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.998e0

QD
type: SiteQuality
SIO_000300: 1.269e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.13e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.47e-1

GenotypeQuality
all individuals: 394
bin: 3.25e1
variant carriers: 0