12-21608993-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21608993
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21608993
    reference: chr 12
allele count: 2
allele frequency: 1.658072325114821e-5
allele num: 120622
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.501T>C
  hgvsp: ENST00000538582.1:c.501T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*220T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.714T>C
  hgvsp: ENST00000240651.9:c.714T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*220T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.116T>C
  hgvsp: ENST00000544187.1:c.116T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*220T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000538072
  gene symbol: PYROXD1
  hgvsc: ENST00000538072.1:n.576T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*640T>C
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5834
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp238Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

12-21608994-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21608994
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21608994
    reference: chr 12
allele count: 1
allele frequency: 8.289949265510494e-6
allele num: 120628
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.715T>C
  hgvsp: ENSP00000240651.9:p.Trp239Arg
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*221T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*641T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.502T>C
  hgvsp: ENSP00000438505.1:p.Trp168Arg
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000538072
  gene symbol: PYROXD1
  hgvsc: ENST00000538072.1:n.577T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.117T>C
  hgvsp: ENSP00000444800.1:p.Trp40Arg
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*221T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*221T>C
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Trp239Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/12-21609002-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21609002
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21609002
    reference: chr 12
allele count: 1
allele frequency: 8.289811821271656e-6
allele num: 120630
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.723A>C
  hgvsp: ENSP00000240651.9:p.Glu241Asp
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.510A>C
  hgvsp: ENSP00000438505.1:p.Glu170Asp
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*229A>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*649A>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*229A>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.125A>C
  hgvsp: ENSP00000444800.1:p.Glu42Asp
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*229A>C
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1901
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45165
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu241Asp
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP

12-21609006-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21609006
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21609006
    reference: chr 12
allele count: 5
allele frequency: 4.146280786134837e-5
allele num: 120590
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.514T>G
  hgvsp: ENSP00000438505.1:p.Leu172Val
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*233T>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*233T>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*653T>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.727T>G
  hgvsp: ENSP00000240651.9:p.Leu243Val
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*233T>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.129T>G
  hgvsp: ENSP00000444800.1:p.Leu44Val
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45098
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2942
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu243Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

12-21609014-TAAAGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21609014
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21609009
    reference: chr 12
allele count: 1
allele frequency: 8.302337938363443e-6
allele num: 120448
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*244_*248delAGGAA
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.525_529delAGGAA
  hgvsp: ENSP00000438505.1:p.Lys175AsnfsTer7
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.738_742delAGGAA
  hgvsp: ENSP00000240651.9:p.Lys246AsnfsTer7
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*244_*248delAGGAA
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*244_*248delAGGAA
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*664_*668delAGGAA
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.140_144delAGGAA
  hgvsp: ENSP00000444800.1:p.Lys47AsnfsTer38
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2939
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys246AsnfsTer7
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: TAAAGG
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

12-21609024-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21609024
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21609024
    reference: chr 12
allele count: 1
allele frequency: 8.316838270762986e-6
allele num: 120238
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.745A>G
  hgvsp: ENSP00000240651.9:p.Lys249Glu
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*251A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*251A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.147A>G
  hgvsp: ENSP00000444800.1:p.Lys50Glu
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*671A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.532A>G
  hgvsp: ENSP00000438505.1:p.Lys178Glu
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*251A>G
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12526
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5789
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2938
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Lys249Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

12-21609029-G-GAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21609029
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21609031
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 119888
alternate allele: GAT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.152_152+1insAT
  hgvsp: ENSP00000444800.1:p.Gln52IlefsTer16
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*256_*256+1insAT
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*676_*676+1insAT
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*256_*256+1insAT
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.750_750+1insAT
  hgvsp: ENSP00000240651.9:p.Phe251IlefsTer14
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*256_*256+1insAT
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.537_537+1insAT
  hgvsp: ENSP00000438505.1:p.Phe180IlefsTer14
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe251IlefsTer14
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

12-21609046-T-TAAAGAGATGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21609046
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21609056
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 118604
alternate allele: TAAAGAGATGA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 7.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

12-21609047-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21609047
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21609047
    reference: chr 12
allele count: 1
allele frequency: 8.430281571404485e-6
allele num: 118620
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*676+18A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.537+18A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.750+18A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*256+18A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*256+18A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*256+18A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.152+18A>G
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5507
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

12-21609749-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21609749
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21609749
    reference: chr 12
allele count: 1
allele frequency: 1.352082206598161e-4
allele num: 7396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*256+720C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.750+720C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.537+720C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*676+720C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*256+720C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.153-50C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*256+720C>T
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-21609761-C-CAACT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21609761
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21609765
    reference: chr 12
allele count: 4591
allele frequency: 4.564525750646252e-1
allele num: 10058
alternate allele: CAACT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.537+734_537+735insCTAA
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.750+734_750+735insCTAA
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*256+734_*256+735insCTAA
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*256+734_*256+735insCTAA
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*676+734_*676+735insCTAA
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*256+734_*256+735insCTAA
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.153-36_153-35insCTAA
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 191
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 2.5e0
  variant carriers: 155
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 2.75e1
  variant carriers: 487
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 1.25e1
  variant carriers: 651
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 3.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.25e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 2.25e1
  variant carriers: 1046
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 1.75e1
  variant carriers: 1130
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.25e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 122
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.25e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 7.5e0
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 6.75e1
  variant carriers: 107
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.25e1
  variant carriers: 66
num of homozygotes: 1057
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

12-21609773-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21609773
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21609773
    reference: chr 12
allele count: 943
allele frequency: 9.236043095004898e-2
allele num: 10210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*256+744A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*256+744A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.750+744A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.537+744A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*676+744A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.153-26A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*256+744A>G
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 2.25e1
  variant carriers: 191
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 3.25e1
  variant carriers: 174
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 2.75e1
  variant carriers: 224
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 2.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 3.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.75e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 9.75e1
  variant carriers: 847
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 7.5e0
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 6.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.75e1
  variant carriers: 4
num of homozygotes: 49
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

12-21609801-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21609801
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21609801
    reference: chr 12
allele count: 1
allele frequency: 9.45179584120983e-5
allele num: 10580
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.750+772A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*256+772A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.537+772A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*256+772A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*256+772A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.155A>G
  hgvsp: ENST00000544187.1:c.155A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*676+772A>G
  variant of: http://identifiers.org/hgnc/26162
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4113
  bin: 6.25e1
  variant carriers: 0
hgvs: c.155A>G
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

12-21609806-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21609806
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21609806
    reference: chr 12
allele count: 1
allele frequency: 9.441087613293051e-5
allele num: 10592
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*676+777C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.750+777C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*256+777C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*256+777C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.537+777C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.160C>T
  hgvsp: ENSP00000444800.1:p.Ser54Leu
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*256+777C>T
  variant of: http://identifiers.org/hgnc/26162
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser54Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-21609814-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21609814
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21609814
    reference: chr 12
allele count: 1
allele frequency: 9.43040362127499e-5
allele num: 10604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.537+785C>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.168C>A
  hgvsp: ENSP00000444800.1:p.Pro57Thr
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*676+785C>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*256+785C>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*256+785C>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.750+785C>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*256+785C>A
  variant of: http://identifiers.org/hgnc/26162
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4155
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 7.5e0
  variant carriers: 1
hgvs: p.Pro57Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum

12-21609854-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21609854
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21609854
    reference: chr 12
allele count: 1
allele frequency: 9.525623928367309e-5
allele num: 10498
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*256+825T>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*256+825T>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.750+825T>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.*26T>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*676+825T>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*256+825T>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.537+825T>G
  variant of: http://identifiers.org/hgnc/26162
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

12-21609857-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21609857
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21609857
    reference: chr 12
allele count: 1
allele frequency: 9.567546880979717e-5
allele num: 10452
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*256+828C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*676+828C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.750+828C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*256+828C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.537+828C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.*29C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*256+828C>T
  variant of: http://identifiers.org/hgnc/26162
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

12-21613908-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21613908
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21613908
    reference: chr 12
allele count: 1
allele frequency: 8.832049742104147e-6
allele num: 113224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*257-51G>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.72G>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.*193-51G>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*677-51G>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.538-51G>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.751-51G>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*257-51G>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*257-51G>A
  variant of: http://identifiers.org/hgnc/26162
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3809
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

12-21613910-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21613910
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21613910
    reference: chr 12
allele count: 1
allele frequency: 8.8265927586633e-6
allele num: 113294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.*193-49G>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*257-49G>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*677-49G>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.538-49G>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*257-49G>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.751-49G>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.74G>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*257-49G>C
  variant of: http://identifiers.org/hgnc/26162
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11014
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3854
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26868
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2397
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

12-21613916-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21613916
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21613916
    reference: chr 12
allele count: 1
allele frequency: 8.8281512085739e-6
allele num: 113274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.*193-43C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.751-43C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*257-43C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.80C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.538-43C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*677-43C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*257-43C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*257-43C>T
  variant of: http://identifiers.org/hgnc/26162
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10532
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11456
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3844
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

12-21613923-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21613923
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21613923
    reference: chr 12
allele count: 55781
allele frequency: 4.850943560309592e-1
allele num: 114990
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.751-36T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*677-36T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.87T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.538-36T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*257-36T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*257-36T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.*193-36T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*257-36T>C
  variant of: http://identifiers.org/hgnc/26162
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 2.5e0
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 8.75e1
  variant carriers: 797
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 4.75e1
  variant carriers: 4064
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 9.75e1
  variant carriers: 3096
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 7.5e0
  variant carriers: 1315
genotype depth: GenotypeDepth
  all individuals: 9179
  bin: 2.75e1
  variant carriers: 2386
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 7.25e1
  variant carriers: 1639
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 5.25e1
  variant carriers: 3590
genotype depth: GenotypeDepth
  all individuals: 4927
  bin: 3.75e1
  variant carriers: 4050
genotype depth: GenotypeDepth
  all individuals: 3800
  bin: 2.25e1
  variant carriers: 1495
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 1.75e1
  variant carriers: 1467
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 6.75e1
  variant carriers: 2023
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 5.75e1
  variant carriers: 2948
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 8.25e1
  variant carriers: 980
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 6.25e1
  variant carriers: 2425
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 4.25e1
  variant carriers: 4250
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 1.25e1
  variant carriers: 2021
genotype depth: GenotypeDepth
  all individuals: 6650
  bin: 3.25e1
  variant carriers: 3310
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 7.75e1
  variant carriers: 1269
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 9.25e1
  variant carriers: 592
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 5.25e1
  variant carriers: 302
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 2.5e0
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 2.25e1
  variant carriers: 247
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 8.25e1
  variant carriers: 541
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 7.25e1
  variant carriers: 249
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.75e1
  variant carriers: 165
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 7.5e0
  variant carriers: 60
num of homozygotes: 13451
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

12-21613934-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21613934
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21613934
    reference: chr 12
allele count: 1
allele frequency: 8.670169415110372e-6
allele num: 115338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*677-25C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*257-25C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*257-25C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.538-25C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*257-25C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.98C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.751-25C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.*193-25C>T
  variant of: http://identifiers.org/hgnc/26162
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9046
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38744
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-21613937-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21613937
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21613937
    reference: chr 12
allele count: 1
allele frequency: 8.648424257100357e-6
allele num: 115628
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.101A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*677-22A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*257-22A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.538-22A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.751-22A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.*193-22A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*257-22A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*257-22A>G
  variant of: http://identifiers.org/hgnc/26162
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39054
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

12-21613941-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21613941
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21613941
    reference: chr 12
allele count: 1
allele frequency: 8.640951195907645e-6
allele num: 115728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.*193-18G>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*257-18G>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*257-18G>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.105G>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*257-18G>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*677-18G>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.751-18G>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.538-18G>A
  variant of: http://identifiers.org/hgnc/26162
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39527
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9033
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2476
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

12-21613942-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21613942
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21613942
    reference: chr 12
allele count: 6
allele frequency: 5.179736869367036e-5
allele num: 115836
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*257-17T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.106T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*677-17T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.751-17T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.538-17T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*257-17T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*257-17T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.*193-17T>C
  variant of: http://identifiers.org/hgnc/26162
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20297
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

12-21613947-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21613947
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21613947
    reference: chr 12
allele count: 1
allele frequency: 8.617569500698023e-6
allele num: 116042
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*257-12T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.538-12T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.111T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*257-12T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.751-12T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*677-12T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*257-12T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.*193-12T>C
  variant of: http://identifiers.org/hgnc/26162
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7269
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

12-21613962-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21613962
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21613962
    reference: chr 12
allele count: 1
allele frequency: 8.524422470377632e-6
allele num: 117310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*260T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*680T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*260T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.126T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*260T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.541T>C
  hgvsp: ENSP00000438505.1:p.Ser181Pro
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.*196T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.754T>C
  hgvsp: ENSP00000240651.9:p.Ser252Pro
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser252Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

12-21613966-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21613966
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21613966
    reference: chr 12
allele count: 4
allele frequency: 3.392475489364589e-5
allele num: 117908
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*264A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.130A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.545A>G
  hgvsp: ENSP00000438505.1:p.His182Arg
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*264A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.*200A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*684A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.758A>G
  hgvsp: ENSP00000240651.9:p.His253Arg
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*264A>G
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6057
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16739
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 9.75e1
  variant carriers: 4
hgvs: p.His253Arg
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

12-21613974-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21613974
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21613974
    reference: chr 12
allele count: 1
allele frequency: 8.419067504083248e-6
allele num: 118778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*692C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*272C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.766C>T
  hgvsp: ENSP00000240651.9:p.His256Tyr
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.553C>T
  hgvsp: ENSP00000438505.1:p.His185Tyr
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.*208C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*272C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*272C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.138C>T
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43583
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His256Tyr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

12-21613979-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21613979
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21613979
    reference: chr 12
allele count: 1
allele frequency: 8.385744234800838e-6
allele num: 119250
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.771T>G
  hgvsp: ENST00000240651.9:c.771T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.558T>G
  hgvsp: ENST00000538582.1:c.558T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*697T>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.143T>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.*213T>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*277T>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*277T>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*277T>G
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43946
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu257Leu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

12-21613985-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21613985
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21613985
    reference: chr 12
allele count: 1
allele frequency: 8.361623492817366e-6
allele num: 119594
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.*219T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*283T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.777T>C
  hgvsp: ENST00000240651.9:c.777T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.149T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*703T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.564T>C
  hgvsp: ENST00000538582.1:c.564T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*283T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*283T>C
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr259Thr
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

12-21613987-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21613987
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21613987
    reference: chr 12
allele count: 2
allele frequency: 1.671122994652406e-5
allele num: 119680
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*285T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*705T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*285T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.779T>C
  hgvsp: ENSP00000240651.9:p.Met260Thr
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.151T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*285T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.566T>C
  hgvsp: ENSP00000438505.1:p.Met189Thr
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000444800
  ensembl transcript: ENST00000544187
  gene symbol: PYROXD1
  hgvsc: ENST00000544187.1:c.*221T>C
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met260Thr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

12-21613998-AAGAAAATCTACCTTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21613998
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21613983
    reference: chr 12
allele count: 1
allele frequency: 8.330972891014212e-6
allele num: 120034
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsp: ENSP00000240651.9:p.Lys265_Gln269del
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsp: ENSP00000438505.1:p.Lys194_Gln198del
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys265_Gln269del
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: AAGAAAATCTACCTTC
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

12-21613999-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21613999
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21613999
    reference: chr 12
allele count: 4
allele frequency: 3.33183400802972e-5
allele num: 120054
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.791A>G
  hgvsp: ENSP00000240651.9:p.Lys264Arg
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*297A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*717A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*297A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.578A>G
  hgvsp: ENSP00000438505.1:p.Lys193Arg
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*297A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.163A>G
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys264Arg
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

12-21614000-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614000
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614001
    reference: chr 12
allele count: 1
allele frequency: 8.329030001166064e-6
allele num: 120062
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.583dupA
  hgvsp: ENSP00000438505.1:p.Ile195AsnfsTer6
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.168dupA
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*302dupA
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.796dupA
  hgvsp: ENSP00000240651.9:p.Ile266AsnfsTer6
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*302dupA
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*302dupA
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*722dupA
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21444
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9285
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile266AsnfsTer6
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/12-21614002-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614002
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614002
    reference: chr 12
allele count: 1
allele frequency: 8.326810664979099e-6
allele num: 120094
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.166A>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.581A>C
  hgvsp: ENSP00000438505.1:p.Lys194Thr
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*300A>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*720A>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.794A>C
  hgvsp: ENSP00000240651.9:p.Lys265Thr
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*300A>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*300A>C
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21457
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys265Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/12-21614008-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614008
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614008
    reference: chr 12
allele count: 1
allele frequency: 8.322375538873816e-6
allele num: 120158
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*306A>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*726A>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*306A>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*306A>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.587A>C
  hgvsp: ENSP00000438505.1:p.Tyr196Ser
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.800A>C
  hgvsp: ENSP00000240651.9:p.Tyr267Ser
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.172A>C
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr267Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

12-21614024-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614024
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614024
    reference: chr 12
allele count: 1
allele frequency: 8.313519445321983e-6
allele num: 120286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*322T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.816T>C
  hgvsp: ENST00000240651.9:c.816T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*322T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.603T>C
  hgvsp: ENST00000538582.1:c.603T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.188T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*322T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*742T>C
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe272Phe
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ

12-21614035-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614035
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614035
    reference: chr 12
allele count: 1
allele frequency: 8.316008316008316e-6
allele num: 120250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*753A>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.614A>T
  hgvsp: ENSP00000438505.1:p.Lys205Met
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*333A>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.199A>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*333A>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.827A>T
  hgvsp: ENSP00000240651.9:p.Lys276Met
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*333A>T
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44681
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9252
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys276Met
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-21614040-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614040
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614040
    reference: chr 12
allele count: 15
allele frequency: 1.247816321437484e-4
allele num: 120210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*338A>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.619A>C
  hgvsp: ENSP00000438505.1:p.Lys207Gln
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.832A>C
  hgvsp: ENSP00000240651.9:p.Lys278Gln
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*758A>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*338A>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.204A>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*338A>C
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44565
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 9.75e1
  variant carriers: 15
hgvs: p.Lys278Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-21614041-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614041
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614041
    reference: chr 12
allele count: 1
allele frequency: 8.319190709127816e-6
allele num: 120204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.620A>G
  hgvsp: ENSP00000438505.1:p.Lys207Arg
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.833A>G
  hgvsp: ENSP00000240651.9:p.Lys278Arg
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*339A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*339A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*339A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*759A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.205A>G
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys278Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS

12-21614042-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614042
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614042
    reference: chr 12
allele count: 69
allele frequency: 5.744255744255744e-4
allele num: 120120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*760G>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.206G>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.834G>C
  hgvsp: ENSP00000240651.9:p.Lys278Asn
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*340G>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*340G>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.621G>C
  hgvsp: ENSP00000438505.1:p.Lys207Asn
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*340G>C
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10496
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 16813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 21462
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys278Asn
num of homozygotes: 1
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-21614043-T-TATA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614043
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614046
    reference: chr 12
allele count: 1
allele frequency: 8.326256015719971e-6
allele num: 120102
alternate allele: TATA
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.622_623insATA
  hgvsp: ENSP00000438505.1:p.Ser208delinsTyrThr
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*341_*342insATA
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*341_*342insATA
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.207_208insATA
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: protein_altering_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.835_836insATA
  hgvsp: ENSP00000240651.9:p.Ser279delinsTyrThr
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*341_*342insATA
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*761_*762insATA
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: protein altering
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser279delinsTyrThr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

12-21614044-C-CTTGTAGAAATGTATAGAAAACATAATT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614044
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614071
    reference: chr 12
allele count: 1
allele frequency: 8.326949338840222e-6
allele num: 120092
alternate allele: CTTGTAGAAATGTATAGAAAACATAATT
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: inframe_insertion
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: inframe_insertion
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: stop gained
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10494
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

12-21614049-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614049
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614049
    reference: chr 12
allele count: 4
allele frequency: 3.332167074857133e-5
allele num: 120042
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*347A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*347A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.628A>G
  hgvsp: ENSP00000438505.1:p.Thr210Ala
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*347A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*767A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.841A>G
  hgvsp: ENSP00000240651.9:p.Thr281Ala
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.213A>G
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21444
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6034
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr281Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-21614050-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614050
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614050
    reference: chr 12
allele count: 1
allele frequency: 8.330556481172942e-6
allele num: 120040
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*768C>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*348C>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.214C>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*348C>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.629C>G
  hgvsp: ENSP00000438505.1:p.Thr210Ser
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*348C>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.842C>G
  hgvsp: ENSP00000240651.9:p.Thr281Ser
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10519
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr281Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

12-21614051-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614051
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614051
    reference: chr 12
allele count: 109
allele frequency: 9.073956911191768e-4
allele num: 120124
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*349T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*349T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.630T>C
  hgvsp: ENST00000538582.1:c.630T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.215T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*349T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.843T>C
  hgvsp: ENST00000240651.9:c.843T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*769T>C
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16795
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 6018
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21423
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10514
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr281Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

12-21614065-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614065
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614065
    reference: chr 12
allele count: 1
allele frequency: 8.346688034188035e-6
allele num: 119808
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*783A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.229A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.857A>G
  hgvsp: ENSP00000240651.9:p.His286Arg
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*363A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*363A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.644A>G
  hgvsp: ENSP00000438505.1:p.His215Arg
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*363A>G
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5998
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9172
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His286Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

12-21614074-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614074
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614074
    reference: chr 12
allele count: 2
allele frequency: 1.676586469947188e-5
allele num: 119290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*372T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.238T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.653T>C
  hgvsp: ENSP00000438505.1:p.Val218Ala
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*372T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.866T>C
  hgvsp: ENSP00000240651.9:p.Val289Ala
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*792T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*372T>C
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9539
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9080
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val289Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

12-21614079-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614079
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614079
    reference: chr 12
allele count: 1
allele frequency: 8.424315945545221e-6
allele num: 118704
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.871G>T
  hgvsp: ENSP00000240651.9:p.Ala291Ser
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*377G>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*377G>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*377G>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.658G>T
  hgvsp: ENSP00000438505.1:p.Ala220Ser
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*797G>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.243G>T
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5968
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2848
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala291Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum

12-21614090-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614090
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614090
    reference: chr 12
allele count: 3
allele frequency: 2.569461098358971e-5
allele num: 116756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.667+2C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*386+2C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*386+2C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.252+2C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.880+2C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*386+2C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*806+2C>T
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16053
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6525
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8311
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6562
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
hgvs: c.880+2C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

12-21614098-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614098
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614098
    reference: chr 12
allele count: 1
allele frequency: 8.722045843072952e-6
allele num: 114652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*806+10G>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*386+10G>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.667+10G>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.880+10G>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*386+10G>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*386+10G>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.252+10G>A
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12387
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

12-21614101-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614101
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614101
    reference: chr 12
allele count: 1
allele frequency: 8.795848359574281e-6
allele num: 113690
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*386+13A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.252+13A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.667+13A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*806+13A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*386+13A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.880+13A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*386+13A>G
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15318
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10847
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

12-21614105-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614105
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614105
    reference: chr 12
allele count: 1
allele frequency: 8.851750876323337e-6
allele num: 112972
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*386+17G>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.880+17G>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*386+17G>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.252+17G>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.667+17G>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*386+17G>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*806+17G>T
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5184
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16241
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29329
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

12-21614113-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614113
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614113
    reference: chr 12
allele count: 1
allele frequency: 9.099015486524358e-6
allele num: 109902
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*386+25A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.252+25A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.880+25A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*386+25A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.667+25A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*386+25A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*806+25A>G
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5946
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2986
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/12-21614117-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614117
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614118
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 105158
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.667+29_667+30insC
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*386+29_*386+30insC
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.880+29_880+30insC
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*806+29_*806+30insC
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.252+29_252+30insC
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*386+29_*386+30insC
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*386+29_*386+30insC
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14007
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7331
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3792
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

12-21614118-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614118
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614118
    reference: chr 12
allele count: 1
allele frequency: 9.7323600973236e-6
allele num: 102750
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.667+30T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.880+30T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*386+30T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*386+30T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.252+30T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*386+30T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*806+30T>C
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14008
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13844
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4561
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/12-21614121-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614121
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614121
    reference: chr 12
allele count: 1
allele frequency: 1.012658227848101e-5
allele num: 98750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.252+33C>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.667+33C>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.880+33C>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*386+33C>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*386+33C>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*806+33C>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*386+33C>A
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14048
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8311
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14434
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6321
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3784
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

12-21614121-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614121
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614121
    reference: chr 12
allele count: 7
allele frequency: 7.088607594936709e-5
allele num: 98750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*806+33C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*386+33C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.667+33C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.252+33C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.880+33C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*386+33C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*386+33C>T
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14434
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14048
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3784
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25982
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6321
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-21614122-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614122
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614122
    reference: chr 12
allele count: 2
allele frequency: 2.078742776368852e-5
allele num: 96212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.667+34C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*386+34C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*386+34C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.880+34C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*386+34C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.252+34C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*806+34C>T
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14667
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4056
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4513
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

12-21614125-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614125
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614125
    reference: chr 12
allele count: 1
allele frequency: 1.13947128532361e-5
allele num: 87760
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*386+37T>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.880+37T>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*386+37T>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.252+37T>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*806+37T>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.667+37T>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*386+37T>G
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14981
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22558
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10219
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6044
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4517
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

12-21614126-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614126
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614126
    reference: chr 12
allele count: 3
allele frequency: 3.519722176596194e-5
allele num: 85234
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.880+38T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.667+38T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*386+38T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*386+38T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*806+38T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.252+38T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*386+38T>C
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8762
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15152
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21590
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4564
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10641
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4444
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5544
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

12-21614129-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614129
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614129
    reference: chr 12
allele count: 2
allele frequency: 2.584580393373136e-5
allele num: 77382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.252+41T>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*386+41T>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.667+41T>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.880+41T>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*806+41T>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*386+41T>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*386+41T>A
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14398
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15207
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4061
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4664
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18532
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

12-21614130-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614130
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614130
    reference: chr 12
allele count: 2
allele frequency: 2.615815218812943e-5
allele num: 76458
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.667+42T>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*386+42T>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*806+42T>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.252+42T>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*386+42T>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*386+42T>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.880+42T>A
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15030
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14260
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4998
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3974
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12871
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

12-21614135-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614135
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614135
    reference: chr 12
allele count: 1
allele frequency: 1.700102006120367e-5
allele num: 58820
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*806+47G>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*386+47G>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*386+47G>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.252+47G>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*386+47G>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.880+47G>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.667+47G>T
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12993
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10412
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3476
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3225
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6532
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4193
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

12-21614138-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614138
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614138
    reference: chr 12
allele count: 9
allele frequency: 1.567616526161778e-4
allele num: 57412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.667+50A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*386+50A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*386+50A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.880+50A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.252+50A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*806+50A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*386+50A>G
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12001
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13112
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7480
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6597
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4690
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3305
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4297
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

12-21614892-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614892
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614892
    reference: chr 12
allele count: 1
allele frequency: 9.349114638843702e-6
allele num: 106962
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.881-50T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.253-50T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*387-50T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*807-50T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*387-50T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*387-50T>C
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.668-50T>C
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16036
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13976
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11576
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6286
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4446
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3405
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

12-21614894-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614894
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614894
    reference: chr 12
allele count: 1
allele frequency: 9.365751320570936e-6
allele num: 106772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*387-48G>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.881-48G>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*387-48G>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*807-48G>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*387-48G>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.253-48G>A
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.668-48G>A
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14943
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6003
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12596
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5415
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6591
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3543
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6136
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

12-21614897-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614897
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614897
    reference: chr 12
allele count: 1718
allele frequency: 1.607440258986882e-2
allele num: 106878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*387-45C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*387-45C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*807-45C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.881-45C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.668-45C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*387-45C>T
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.253-45C>T
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 3.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5904
  bin: 7.5e0
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 3.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 14445
  bin: 2.25e1
  variant carriers: 381
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 2.75e1
  variant carriers: 215
genotype depth: GenotypeDepth
  all individuals: 13743
  bin: 1.25e1
  variant carriers: 343
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 12968
  bin: 1.75e1
  variant carriers: 439
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 5297
  bin: 4.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 5902
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5930
  bin: 9.75e1
  variant carriers: 1679
genotype quality: GenotypeQuality
  all individuals: 6299
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 7.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 8.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3354
  bin: 4.25e1
  variant carriers: 3
num of homozygotes: 28
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

12-21614899-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614899
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614899
    reference: chr 12
allele count: 2
allele frequency: 1.860361282160996e-5
allele num: 107506
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*807-43A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*387-43A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.668-43A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.253-43A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*387-43A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.881-43A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*387-43A>G
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5858
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11195
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5786
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5997
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6310
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

12-21614903-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614903
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614903
    reference: chr 12
allele count: 55467
allele frequency: 4.969092668243388e-1
allele num: 111624
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.668-39A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*387-39A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*387-39A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.253-39A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*807-39A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.881-39A>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*387-39A>G
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 7.5e0
  variant carriers: 1557
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.75e1
  variant carriers: 552
genotype depth: GenotypeDepth
  all individuals: 9472
  bin: 2.75e1
  variant carriers: 7470
genotype depth: GenotypeDepth
  all individuals: 11512
  bin: 1.75e1
  variant carriers: 9372
genotype depth: GenotypeDepth
  all individuals: 15099
  bin: 2.25e1
  variant carriers: 10037
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.25e1
  variant carriers: 467
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 3.75e1
  variant carriers: 1814
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 9044
  bin: 1.25e1
  variant carriers: 5664
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.75e1
  variant carriers: 381
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 325
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 3.25e1
  variant carriers: 3892
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 9.75e1
  variant carriers: 528
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 217
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 141
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.75e1
  variant carriers: 275
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.25e1
  variant carriers: 957
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 7.25e1
  variant carriers: 628
genotype quality: GenotypeQuality
  all individuals: 6239
  bin: 6.25e1
  variant carriers: 1339
genotype quality: GenotypeQuality
  all individuals: 31727
  bin: 9.75e1
  variant carriers: 30809
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 1.25e1
  variant carriers: 161
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 5.25e1
  variant carriers: 1324
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 4.25e1
  variant carriers: 643
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 2.5e0
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 7.75e1
  variant carriers: 1101
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 5.75e1
  variant carriers: 738
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 8.25e1
  variant carriers: 987
num of homozygotes: 13353
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS

12-21614904-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21614904
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21614904
    reference: chr 12
allele count: 3
allele frequency: 2.640659108513485e-5
allele num: 113608
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000438505
  ensembl transcript: ENST00000538582
  gene symbol: PYROXD1
  hgvsc: ENST00000538582.1:c.668-38C>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000443912
  ensembl transcript: ENST00000545178
  gene symbol: PYROXD1
  hgvsc: ENST00000545178.1:c.*387-38C>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000240651
  ensembl transcript: ENST00000240651
  gene symbol: PYROXD1
  hgvsc: ENST00000240651.9:c.881-38C>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl transcript: ENST00000536851
  gene symbol: PYROXD1
  hgvsc: ENST00000536851.1:n.253-38C>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000440192
  ensembl transcript: ENST00000543476
  gene symbol: PYROXD1
  hgvsc: ENST00000543476.1:c.*387-38C>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000364415
  ensembl transcript: ENST00000375266
  gene symbol: PYROXD1
  hgvsc: ENST00000375266.4:c.*807-38C>G
  variant of: http://identifiers.org/hgnc/26162
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000121350
  ensembl protein: ENSP00000439106
  ensembl transcript: ENST00000544970
  gene symbol: PYROXD1
  hgvsc: ENST00000544970.1:c.*387-38C>G
  variant of: http://identifiers.org/hgnc/26162
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: C

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

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1900
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45249
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1710
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2945
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
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: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66302
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.718395815170009e-5
allele num: 11470
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.25e0

DP
type: SiteQuality
SIO_000300: 1.545488e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 1.492e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-2

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

GenotypeQuality
all individuals: 45232
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2942
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1901
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1711
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5836
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508159140952553e-5
allele num: 66306
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.589e0

DP
type: SiteQuality
SIO_000300: 1.545376e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.067e0

QD
type: SiteQuality
SIO_000300: 9.65e0

VQSLOD
type: SiteQuality
SIO_000300: -3.172e0

MQ
type: SiteQuality
SIO_000300: 3.603e1

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2939
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5835
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 62
bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66288
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.808e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 2.689e0

QD
type: SiteQuality
SIO_000300: 1.141e1

DP
type: SiteQuality
SIO_000300: 1.545078e6

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5834
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1701
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1894
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.548309178743961e-5
allele num: 66240
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.544879e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.116e0

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.157e1

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44855
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 706
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5823
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 529
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.710623422023694e-5
allele num: 10298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66144
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.542301e6

FS
type: SiteQuality
SIO_000300: 6.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 1.31e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1690
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1882
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44412
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515564851019975e-5
allele num: 65982
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.47e-1

DP
type: SiteQuality
SIO_000300: 1.537596e6

MQ
type: SiteQuality
SIO_000300: 5.797e1

MQRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.392e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

GenotypeQuality
all individuals: 1162
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5755
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43859
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2936
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 525
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1875
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1680
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65742
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

DP
type: SiteQuality
SIO_000300: 1.532336e6

QD
type: SiteQuality
SIO_000300: 1.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

FS
type: SiteQuality
SIO_000300: 2.908e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.231e0

VQSLOD
type: SiteQuality
SIO_000300: -1.812e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

MQ
type: SiteQuality
SIO_000300: 5.177e1

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1011
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 5.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2923
bin: 9.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64972
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.71e-1

DP
type: SiteQuality
SIO_000300: 1.490858e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

VQSLOD
type: SiteQuality
SIO_000300: -4.08e-1

QD
type: SiteQuality
SIO_000300: 5.600000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.012e0

MQ
type: SiteQuality
SIO_000300: 5.265e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

GenotypeQuality
all individuals: 608
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3336
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2924
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 73
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1853
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39804
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1639
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53907716932927e-5
allele num: 64974
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16178
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.429999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.04e0

VQSLOD
type: SiteQuality
SIO_000300: -2.89e0

MQRankSum
type: SiteQuality
SIO_000300: -2.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

QD
type: SiteQuality
SIO_000300: 1.985e1

DP
type: SiteQuality
SIO_000300: 1.49056e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 193
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 126
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.883239171374765e-4
allele num: 5310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 76
num of homozygotes: 0

FS
type: SiteQuality
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MQ
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SIO_000300: 5.359e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.36e-2

BaseQRankSum
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SIO_000300: -1.38e0

DP
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SIO_000300: 9.5114e4

MQRankSum
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SIO_000300: -1.38e0

VQSLOD
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SIO_000300: -1.558e0

QD
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SIO_000300: 5.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.06e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 69

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2592

GenotypeQuality
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variant carriers: 122

African
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allele count: 87
allele frequency: 4.833333333333333e-1
allele num: 180
num of homozygotes: 23

South Asian
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allele count: 3116
allele frequency: 4.38132733408324e-1
allele num: 7112
num of homozygotes: 693

Latino
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allele count: 49
allele frequency: 5.444444444444444e-1
allele num: 90
num of homozygotes: 11

European (Non-Finnish)
type: Population
allele count: 1210
allele frequency: 4.967159277504105e-1
allele num: 2436
num of homozygotes: 297

East Asian
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allele count: 71
allele frequency: 5.461538461538461e-1
allele num: 130
num of homozygotes: 17

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 58
allele frequency: 5.272727272727272e-1
allele num: 110
num of homozygotes: 16

QD
type: SiteQuality
SIO_000300: 2.017e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

DP
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SIO_000300: 1.07563e5

BaseQRankSum
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SIO_000300: 2.99e-1

MQ
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SIO_000300: 4.874e1

InbreedingCoeff
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SIO_000300: 1.01e-1

MQRankSum
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SIO_000300: -3.067e0

FS
type: SiteQuality
SIO_000300: 4.512e0

VQSLOD
type: SiteQuality
SIO_000300: 6.53e-1

ReadPosRankSum
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SIO_000300: -1.56e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 554
allele frequency: 7.700861829302197e-2
allele num: 7194
num of homozygotes: 24

Other
type: Population
allele count: 12
allele frequency: 1.071428571428571e-1
allele num: 112
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 288
allele frequency: 1.153846153846154e-1
allele num: 2496
num of homozygotes: 16

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
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allele count: 31
allele frequency: 1.666666666666667e-1
allele num: 186
num of homozygotes: 4

East Asian
type: Population
allele count: 46
allele frequency: 3.538461538461539e-1
allele num: 130
num of homozygotes: 4

Latino
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allele count: 12
allele frequency: 1.304347826086956e-1
allele num: 92
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.687e0

QD
type: SiteQuality
SIO_000300: 1.38e1

MQ
type: SiteQuality
SIO_000300: 5.005e1

FS
type: SiteQuality
SIO_000300: 6.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

DP
type: SiteQuality
SIO_000300: 1.26066e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

VQSLOD
type: SiteQuality
SIO_000300: -6.37e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 167
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.348072256672958e-4
allele num: 7418
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 132
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.93e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.99e0

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: -2.207e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.0e-1

DP
type: SiteQuality
SIO_000300: 1.3485e5

MQ
type: SiteQuality
SIO_000300: 5.756e1

GenotypeQuality
all individuals: 1522
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variant carriers: 0

GenotypeQuality
all individuals: 17
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2642
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.34698275862069e-4
allele num: 7424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.35157e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.92e-1

QD
type: SiteQuality
SIO_000300: 1.188e1

MQRankSum
type: SiteQuality
SIO_000300: -8.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.234e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.475e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.03e-2

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2650
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

African
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allele count: 1
allele frequency: 5.319148936170213e-3
allele num: 188
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.122e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.95e-2

DP
type: SiteQuality
SIO_000300: 1.3556e5

QD
type: SiteQuality
SIO_000300: 6.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.25e-1

FS
type: SiteQuality
SIO_000300: 9.84e-1

MQ
type: SiteQuality
SIO_000300: 5.411e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.356483993488877e-4
allele num: 7372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2604
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FS
type: SiteQuality
SIO_000300: 4.371e0

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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SIO_000300: 1.2649e5

ReadPosRankSum
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SIO_000300: -1.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.051e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

VQSLOD
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QD
type: SiteQuality
SIO_000300: 7.71e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 92
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 2592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.362769146906514e-4
allele num: 7338
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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DP
type: SiteQuality
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QD
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ReadPosRankSum
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FS
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MQ
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 1
allele frequency: 8.23045267489712e-5
allele num: 12150
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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Other
type: Population
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11500
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64014
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

DP
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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MQ
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BaseQRankSum
type: SiteQuality
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QD
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ReadPosRankSum
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FS
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 12154
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9550
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.561085266477255e-5
allele num: 64058
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.472e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.66e-1

DP
type: SiteQuality
SIO_000300: 2.424144e6

MQ
type: SiteQuality
SIO_000300: 5.706e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

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

GenotypeQuality
all individuals: 949
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2386
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2378
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1322
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1568
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26870
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9550
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.561085266477255e-5
allele num: 64058
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12134
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.286e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: -2.231e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.298e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

DP
type: SiteQuality
SIO_000300: 2.427325e6

GenotypeQuality
all individuals: 959
bin: 7.75e1
variant carriers: 445

GenotypeQuality
all individuals: 325
bin: 4.25e1
variant carriers: 211

GenotypeQuality
all individuals: 321
bin: 1.75e1
variant carriers: 202

GenotypeQuality
all individuals: 434
bin: 2.75e1
variant carriers: 160

GenotypeQuality
all individuals: 628
bin: 3.25e1
variant carriers: 299

GenotypeQuality
all individuals: 462
bin: 8.75e1
variant carriers: 352

GenotypeQuality
all individuals: 659
bin: 9.25e1
variant carriers: 522

GenotypeQuality
all individuals: 39494
bin: 9.75e1
variant carriers: 38793

GenotypeQuality
all individuals: 565
bin: 3.75e1
variant carriers: 310

GenotypeQuality
all individuals: 187
bin: 1.25e1
variant carriers: 65

GenotypeQuality
all individuals: 9650
bin: 6.25e1
variant carriers: 285

GenotypeQuality
all individuals: 420
bin: 4.75e1
variant carriers: 299

GenotypeQuality
all individuals: 2517
bin: 6.75e1
variant carriers: 281

European (Finnish)
type: Population
allele count: 2926
allele frequency: 4.429306690887073e-1
allele num: 6606
num of homozygotes: 653

South Asian
type: Population
allele count: 5949
allele frequency: 4.480343425214641e-1
allele num: 13278
num of homozygotes: 1347

Other
type: Population
allele count: 437
allele frequency: 5.141176470588236e-1
allele num: 850
num of homozygotes: 125

Latino
type: Population
allele count: 5486
allele frequency: 4.76794715800452e-1
allele num: 11506
num of homozygotes: 1311

East Asian
type: Population
allele count: 4771
allele frequency: 5.54638456172983e-1
allele num: 8602
num of homozygotes: 1288

African
type: Population
allele count: 4818
allele frequency: 4.980359727103577e-1
allele num: 9674
num of homozygotes: 1186

European (Non-Finnish)
type: Population
allele count: 31394
allele frequency: 4.869249620001861e-1
allele num: 64474
num of homozygotes: 7541

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

FS
type: SiteQuality
SIO_000300: 2.702e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

MQ
type: SiteQuality
SIO_000300: 5.822e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

QD
type: SiteQuality
SIO_000300: 2.162e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.34e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.08e-1

DP
type: SiteQuality
SIO_000300: 2.74679e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

GenotypeQuality
all individuals: 229
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1481
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1135
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1221
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2379
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.546886118243975e-5
allele num: 64646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.515e0

MQ
type: SiteQuality
SIO_000300: 5.857e1

VQSLOD
type: SiteQuality
SIO_000300: -1.346e0

DP
type: SiteQuality
SIO_000300: 1.777114e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 1.051e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.551e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e-1

GenotypeQuality
all individuals: 1718
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2480
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1484
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9046
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1219
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 267
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.342143906020558e-5
allele num: 13620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64706
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.502e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.85e0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e-1

MQ
type: SiteQuality
SIO_000300: 5.894e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.76e-1

FS
type: SiteQuality
SIO_000300: 1.1414e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 1.182e1

DP
type: SiteQuality
SIO_000300: 1.779145e6

GenotypeQuality
all individuals: 1461
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1717
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 241
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544783266907653e-5
allele num: 64734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13682
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.942e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.757e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

DP
type: SiteQuality
SIO_000300: 1.783674e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.01e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e0

VQSLOD
type: SiteQuality
SIO_000300: -2.086e0

GenotypeQuality
all individuals: 265
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
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variant carriers: 0

GenotypeQuality
all individuals: 297
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variant carriers: 0

GenotypeQuality
all individuals: 9035
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39673
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
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variant carriers: 0

GenotypeQuality
all individuals: 241
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variant carriers: 0

GenotypeQuality
all individuals: 1723
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variant carriers: 0

GenotypeQuality
all individuals: 1463
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 6
allele frequency: 4.366176684616504e-4
allele num: 13742
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9688
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 1.784759e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.19e1

MQ
type: SiteQuality
SIO_000300: 5.923e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

GenotypeQuality
all individuals: 1715
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9046
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40281
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1461
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.542257865515114e-5
allele num: 64840
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

VQSLOD
type: SiteQuality
SIO_000300: -1.693e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e-1

FS
type: SiteQuality
SIO_000300: 2.066e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

QD
type: SiteQuality
SIO_000300: 6.9e0

DP
type: SiteQuality
SIO_000300: 1.789579e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

GenotypeQuality
all individuals: 264
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42081
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9101
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1465
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
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variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1715
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14716
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534401276621862e-5
allele num: 65172
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.49e-1

MQ
type: SiteQuality
SIO_000300: 5.733e1

QD
type: SiteQuality
SIO_000300: 1.002e1

DP
type: SiteQuality
SIO_000300: 1.812019e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.654e0

FS
type: SiteQuality
SIO_000300: 2.091e0

MQRankSum
type: SiteQuality
SIO_000300: 2.42e0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1462
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
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variant carriers: 0

GenotypeQuality
all individuals: 42860
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1722
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9139
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 4
allele frequency: 4.62962962962963e-4
allele num: 8640
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15094
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.821165e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.6e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.174e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.181e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 3.337e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.406970784213224e-5
allele num: 15608
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65652
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9822
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-1

InbreedingCoeff
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SIO_000300: -9.0e-4

DP
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MQ
type: SiteQuality
SIO_000300: 5.741e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.72e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.897e0

QD
type: SiteQuality
SIO_000300: 1.01e1

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15900
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5194797301404e-5
allele num: 65812
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.0716e1

DP
type: SiteQuality
SIO_000300: 1.83881e6

MQ
type: SiteQuality
SIO_000300: 5.788e1

VQSLOD
type: SiteQuality
SIO_000300: -1.791e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-1

QD
type: SiteQuality
SIO_000300: 1.611e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65940
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9854
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.213495712687958e-5
allele num: 16094
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.843108e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.43e0

QD
type: SiteQuality
SIO_000300: 1.333e1

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

MQ
type: SiteQuality
SIO_000300: 5.57e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.089e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-2

FS
type: SiteQuality
SIO_000300: 1.2319e1

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

GenotypeQuality
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variant carriers: 2

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

African
type: Population
allele count: 1
allele frequency: 1.01440454453236e-4
allele num: 9858
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16138
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515656734062869e-5
allele num: 65978
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.809e1

FS
type: SiteQuality
SIO_000300: 2.136e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.802e0

QD
type: SiteQuality
SIO_000300: 1.304e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

DP
type: SiteQuality
SIO_000300: 1.844073e6

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: 47
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16306
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512355948095944e-5
allele num: 66122
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9900
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.847713e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.698e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.58e0

FS
type: SiteQuality
SIO_000300: 5.197e0

MQ
type: SiteQuality
SIO_000300: 5.262e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e-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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variant carriers: 4

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

Latino
type: Population
allele count: 4
allele frequency: 3.462004500605851e-4
allele num: 11554
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66126
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9904
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.13e-1

FS
type: SiteQuality
SIO_000300: 1.707e0

MQRankSum
type: SiteQuality
SIO_000300: 1.95e0

InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.414e0

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

DP
type: SiteQuality
SIO_000300: 1.848062e6

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9900
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16328
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512218727316719e-5
allele num: 66128
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.779e1

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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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.009693053311793e-4
allele num: 9904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.21e-1

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.002e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 3.793e1

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
all individuals: 69
bin: 3.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66172
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

MQ
type: SiteQuality
SIO_000300: 5.722e1

QD
type: SiteQuality
SIO_000300: 1.331e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.02e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 8.815e0

VQSLOD
type: SiteQuality
SIO_000300: -1.352e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

GenotypeQuality
all individuals: 259
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9277
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 616
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1442
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 64
bin: 2.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.006846556584777e-4
allele num: 9932
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66242
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.77e0

QD
type: SiteQuality
SIO_000300: 1.294e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

DP
type: SiteQuality
SIO_000300: 1.849756e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.484e0

FS
type: SiteQuality
SIO_000300: 7.17e-1

MQ
type: SiteQuality
SIO_000300: 5.532e1

GenotypeQuality
all individuals: 1713
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1436
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 640
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66238
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9928
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.093845216331505e-5
allele num: 16410
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.333e1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.52e-1

QD
type: SiteQuality
SIO_000300: 1.453e1

VQSLOD
type: SiteQuality
SIO_000300: -1.441e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.848196e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.69e-1

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9250
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.007861318282604e-4
allele num: 9922
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.114292618098345e-4
allele num: 66216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

QD
type: SiteQuality
SIO_000300: 1.453e1

MQRankSum
type: SiteQuality
SIO_000300: 7.75e-1

DP
type: SiteQuality
SIO_000300: 1.847037e6

MQ
type: SiteQuality
SIO_000300: 5.717e1

FS
type: SiteQuality
SIO_000300: 5.639999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

VQSLOD
type: SiteQuality
SIO_000300: -1.717e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

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

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

GenotypeQuality
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1434
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9251
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9920
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510300247689241e-5
allele num: 66212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.84647e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.68e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.47e0

QD
type: SiteQuality
SIO_000300: 1.098e1

MQ
type: SiteQuality
SIO_000300: 5.041e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.383e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

FS
type: SiteQuality
SIO_000300: 8.32e-1

GenotypeQuality
all individuals: 227
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44519
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 9.75e1
variant carriers: 67

GenotypeQuality
all individuals: 628
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 119
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 65
allele frequency: 6.553740673522887e-3
allele num: 9918
num of homozygotes: 1

Latino
type: Population
allele count: 3
allele frequency: 2.601456815816858e-4
allele num: 11532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511532996765319e-5
allele num: 66158
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 1.847412e6

MQ
type: SiteQuality
SIO_000300: 5.62e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.354e1

VQSLOD
type: SiteQuality
SIO_000300: 4.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.93e-1

GenotypeQuality
all individuals: 44435
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 625
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9245
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 8.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511578692786746e-5
allele num: 66156
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.606e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

QD
type: SiteQuality
SIO_000300: 2.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

MQ
type: SiteQuality
SIO_000300: 4.818e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 2.754e0

MQRankSum
type: SiteQuality
SIO_000300: -1.85e0

DP
type: SiteQuality
SIO_000300: 1.8444e6

GenotypeQuality
all individuals: 87
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9230
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1702
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44521
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511670093118878e-5
allele num: 66152
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9912
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.1e-1

MQ
type: SiteQuality
SIO_000300: 4.74e1

FS
type: SiteQuality
SIO_000300: 2.695e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

DP
type: SiteQuality
SIO_000300: 1.84464e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.14e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.221e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.01e-1

GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44510
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1126
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 248
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1412
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9205
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.04814322003145e-5
allele num: 66136
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9902
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQRankSum
type: SiteQuality
SIO_000300: 8.19e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.068e0

MQ
type: SiteQuality
SIO_000300: 5.452e1

QD
type: SiteQuality
SIO_000300: 1.384e1

DP
type: SiteQuality
SIO_000300: 1.843288e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.041e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
all individuals: 67
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44524
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1119
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9201
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1410
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.10798924993892e-5
allele num: 16372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66136
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.86e-1

QD
type: SiteQuality
SIO_000300: 1.849e1

VQSLOD
type: SiteQuality
SIO_000300: -9.223e-1

DP
type: SiteQuality
SIO_000300: 1.842875e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.61e-1

FS
type: SiteQuality
SIO_000300: 2.954e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.883e0

MQ
type: SiteQuality
SIO_000300: 5.696e1

GenotypeQuality
all individuals: 1420
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44566
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1690
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9213
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 109

African
type: Population
allele count: 8
allele frequency: 8.077544426494346e-4
allele num: 9904
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.532406707961928e-5
allele num: 66190
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.734003814808393e-4
allele num: 11534
num of homozygotes: 0

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

East Asian
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allele count: 90
allele frequency: 1.044083526682135e-2
allele num: 8620
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.664345914254306e-4
allele num: 16374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.84e-1

BaseQRankSum
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SIO_000300: 2.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.843847e6

VQSLOD
type: SiteQuality
SIO_000300: 2.98e-1

QD
type: SiteQuality
SIO_000300: 1.469e1

MQ
type: SiteQuality
SIO_000300: 5.612e1

FS
type: SiteQuality
SIO_000300: 5.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

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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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514279657167086e-5
allele num: 66038
num of homozygotes: 0

African
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: 6596
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.369e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

MQ
type: SiteQuality
SIO_000300: 5.843e1

FS
type: SiteQuality
SIO_000300: 1.234e0

QD
type: SiteQuality
SIO_000300: 1.946e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.320000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

DP
type: SiteQuality
SIO_000300: 1.832178e6

VQSLOD
type: SiteQuality
SIO_000300: -1.702e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.037574800279457e-5
allele num: 65842
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16042
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

VQSLOD
type: SiteQuality
SIO_000300: 4.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.832e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.429999999999999e-1

QD
type: SiteQuality
SIO_000300: 9.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.44e-1

DP
type: SiteQuality
SIO_000300: 1.820735e6

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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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524297298945186e-5
allele num: 65604
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15804
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.241e0

DP
type: SiteQuality
SIO_000300: 1.807458e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.81e0

FS
type: SiteQuality
SIO_000300: 5.971e0

MQ
type: SiteQuality
SIO_000300: 5.626e1

QD
type: SiteQuality
SIO_000300: 1.133e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.04602510460251e-4
allele num: 9560
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.092432816897053e-5
allele num: 64674
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.01e-1

MQ
type: SiteQuality
SIO_000300: 5.714e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.737e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

DP
type: SiteQuality
SIO_000300: 1.743208e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.028e0

VQSLOD
type: SiteQuality
SIO_000300: -1.683e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1318
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GenotypeQuality
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GenotypeQuality
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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: 129
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GenotypeQuality
all individuals: 7184
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14736
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.57425773747678e-5
allele num: 63522
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9332
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.782e0

MQRankSum
type: SiteQuality
SIO_000300: 3.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.188e0

DP
type: SiteQuality
SIO_000300: 1.621017e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 5.499e1

VQSLOD
type: SiteQuality
SIO_000300: -2.268e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.327e0

QD
type: SiteQuality
SIO_000300: 1.787e1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.586646780693682e-5
allele num: 63026
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14522
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6450
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8314
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African
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.24e0

MQ
type: SiteQuality
SIO_000300: 5.797e1

DP
type: SiteQuality
SIO_000300: 1.550352e6

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 8.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

QD
type: SiteQuality
SIO_000300: 8.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-2

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8262
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

African
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allele frequency: 1.09217999126256e-4
allele num: 9156
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6420
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14388
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.498e1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.009e1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.529498e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 7.336757153338224e-5
allele num: 13630
num of homozygotes: 0

Other
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Latino
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African
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 60964
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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MQ
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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allele frequency: 0.0e0
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
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European (Non-Finnish)
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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 frequency: 0.0e0
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InbreedingCoeff
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MQ
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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BaseQRankSum
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SIO_000300: -1.179e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

DP
type: SiteQuality
SIO_000300: 1.290595e6

QD
type: SiteQuality
SIO_000300: 5.3e-1

GenotypeQuality
all individuals: 294
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2251
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.760315448528376e-5
allele num: 56808
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6124
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10676
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 4.759e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.21e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

QD
type: SiteQuality
SIO_000300: 5.28e0

MQRankSum
type: SiteQuality
SIO_000300: -1.401e0

VQSLOD
type: SiteQuality
SIO_000300: -1.995e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

DP
type: SiteQuality
SIO_000300: 1.270732e6

GenotypeQuality
all individuals: 4348
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.526603001364257e-5
allele num: 11728
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6000
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10442
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.027e0

MQ
type: SiteQuality
SIO_000300: 5.749e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.647e0

DP
type: SiteQuality
SIO_000300: 1.223483e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.331e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.68e-1

QD
type: SiteQuality
SIO_000300: 1.151e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.81e-1

GenotypeQuality
all individuals: 182
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 7
allele frequency: 6.703696609844858e-4
allele num: 10442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6000
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54564
num of homozygotes: 0

Other
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: 7302
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.647e0

VQSLOD
type: SiteQuality
SIO_000300: -1.331e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

FS
type: SiteQuality
SIO_000300: 4.027e0

MQRankSum
type: SiteQuality
SIO_000300: 9.68e-1

DP
type: SiteQuality
SIO_000300: 1.223483e6

MQ
type: SiteQuality
SIO_000300: 5.749e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.81e-1

QD
type: SiteQuality
SIO_000300: 1.151e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-2

GenotypeQuality
all individuals: 8378
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1825
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.586652871184687e-4
allele num: 7732
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7084
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5880
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.77e-2

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.309e1

DP
type: SiteQuality
SIO_000300: 1.201945e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: -1.507e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.329e0

GenotypeQuality
all individuals: 937
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1213
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 274
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variant carriers: 0

GenotypeQuality
all individuals: 2419
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GenotypeQuality
all individuals: 1619
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4473
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variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7090
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.070221927790659e-5
allele num: 48304
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.459e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.96e-1

MQ
type: SiteQuality
SIO_000300: 5.395e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.31e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.62e0

QD
type: SiteQuality
SIO_000300: 5.75e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.149111e6

MQRankSum
type: SiteQuality
SIO_000300: -1.321e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.134e0

GenotypeQuality
all individuals: 817
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 864
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2534
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 161
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10048
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.393316852783225e-5
allele num: 46924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9328
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6000
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.799e-1

MQ
type: SiteQuality
SIO_000300: 4.625e1

MQRankSum
type: SiteQuality
SIO_000300: -1.055e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.53e-2

FS
type: SiteQuality
SIO_000300: 3.374e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

DP
type: SiteQuality
SIO_000300: 1.137642e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

QD
type: SiteQuality
SIO_000300: 1.139e1

GenotypeQuality
all individuals: 4445
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
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variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.690651531497725e-5
allele num: 42638
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5258
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9094
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.06e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.901e0

QD
type: SiteQuality
SIO_000300: 4.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e0

DP
type: SiteQuality
SIO_000300: 1.102274e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.708e0

MQ
type: SiteQuality
SIO_000300: 5.829e1

GenotypeQuality
all individuals: 2933
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1927
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17562
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
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variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4882
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.73305566073457e-5
allele num: 42256
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.44e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

MQ
type: SiteQuality
SIO_000300: 5.829e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e0

DP
type: SiteQuality
SIO_000300: 1.087625e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.708e0

GenotypeQuality
all individuals: 5445
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 119
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variant carriers: 0

GenotypeQuality
all individuals: 258
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 923
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GenotypeQuality
all individuals: 107
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4676
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.404099971918001e-4
allele num: 7122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6668
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3912
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.391e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.56e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.91e-2

QD
type: SiteQuality
SIO_000300: 1.05e1

DP
type: SiteQuality
SIO_000300: 1.029285e6

GenotypeQuality
all individuals: 2007
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 930
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variant carriers: 8

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3420
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4568
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 1.369446135118685e-3
allele num: 6572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3808
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6844
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.26e-2

MQ
type: SiteQuality
SIO_000300: 5.844e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.431e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

QD
type: SiteQuality
SIO_000300: 1.184e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.041e0

DP
type: SiteQuality
SIO_000300: 1.021724e6

GenotypeQuality
all individuals: 1537
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5220
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5047
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6182
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3560
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1689
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6628
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6933
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14948
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9084
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.725268279217418e-5
allele num: 57962
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.183e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.239996e6

QD
type: SiteQuality
SIO_000300: 9.27e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

MQ
type: SiteQuality
SIO_000300: 5.635e1

MQRankSum
type: SiteQuality
SIO_000300: -9.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

GenotypeQuality
all individuals: 1175
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9341
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4444
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3435
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4091
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.728787774012862e-5
allele num: 57844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9088
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14932
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.066e0

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

DP
type: SiteQuality
SIO_000300: 1.246575e6

VQSLOD
type: SiteQuality
SIO_000300: -2.213e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

QD
type: SiteQuality
SIO_000300: 5.24e0

GenotypeQuality
all individuals: 631
bin: 9.25e1
variant carriers: 15

GenotypeQuality
all individuals: 569
bin: 5.75e1
variant carriers: 8

GenotypeQuality
all individuals: 830
bin: 1.75e1
variant carriers: 7

GenotypeQuality
all individuals: 11219
bin: 6.25e1
variant carriers: 9

GenotypeQuality
all individuals: 3098
bin: 2.75e1
variant carriers: 7

GenotypeQuality
all individuals: 674
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 5574
bin: 2.25e1
variant carriers: 9

GenotypeQuality
all individuals: 3449
bin: 6.75e1
variant carriers: 7

GenotypeQuality
all individuals: 2597
bin: 5.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1242
bin: 7.25e1
variant carriers: 16

South Asian
type: Population
allele count: 8
allele frequency: 5.36480686695279e-4
allele num: 14912
num of homozygotes: 0

African
type: Population
allele count: 34
allele frequency: 3.735442759833004e-3
allele num: 9102
num of homozygotes: 0

Other
type: Population
allele count: 10
allele frequency: 1.19047619047619e-2
allele num: 840
num of homozygotes: 0

Latino
type: Population
allele count: 95
allele frequency: 8.95550527903469e-3
allele num: 10608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 125
allele frequency: 1.977848101265823e-2
allele num: 6320
num of homozygotes: 4

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1446
allele frequency: 2.496978069418063e-2
allele num: 57910
num of homozygotes: 24

MQ
type: SiteQuality
SIO_000300: 5.875e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

QD
type: SiteQuality
SIO_000300: 1.435e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.621e0

DP
type: SiteQuality
SIO_000300: 1.263837e6

GenotypeQuality
all individuals: 3194
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12995
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3768
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3084
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4661
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4466
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 733
bin: 1.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14992
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7240
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58318
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.879345987596316e-4
allele num: 10642
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

DP
type: SiteQuality
SIO_000300: 1.278929e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.737e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.737e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.424e1

VQSLOD
type: SiteQuality
SIO_000300: -1.258e0

GenotypeQuality
all individuals: 461
bin: 1.75e1
variant carriers: 247

GenotypeQuality
all individuals: 2161
bin: 3.25e1
variant carriers: 665

GenotypeQuality
all individuals: 2202
bin: 2.25e1
variant carriers: 380

GenotypeQuality
all individuals: 585
bin: 8.75e1
variant carriers: 495

GenotypeQuality
all individuals: 354
bin: 7.5e0
variant carriers: 117

GenotypeQuality
all individuals: 1918
bin: 4.75e1
variant carriers: 1157

GenotypeQuality
all individuals: 2111
bin: 6.75e1
variant carriers: 1314

GenotypeQuality
all individuals: 1247
bin: 2.75e1
variant carriers: 298

GenotypeQuality
all individuals: 823
bin: 9.25e1
variant carriers: 700

GenotypeQuality
all individuals: 2280
bin: 3.75e1
variant carriers: 917

African
type: Population
allele count: 4868
allele frequency: 5.065556711758585e-1
allele num: 9610
num of homozygotes: 1199

East Asian
type: Population
allele count: 4544
allele frequency: 5.876875323331608e-1
allele num: 7732
num of homozygotes: 1271

European (Finnish)
type: Population
allele count: 2854
allele frequency: 4.476160602258469e-1
allele num: 6376
num of homozygotes: 634

Latino
type: Population
allele count: 5265
allele frequency: 4.898585783401563e-1
allele num: 10748
num of homozygotes: 1250

South Asian
type: Population
allele count: 7239
allele frequency: 4.639789770542238e-1
allele num: 15602
num of homozygotes: 1698

European (Non-Finnish)
type: Population
allele count: 30249
allele frequency: 4.983689205219454e-1
allele num: 60696
num of homozygotes: 7175

Other
type: Population
allele count: 448
allele frequency: 5.209302325581395e-1
allele num: 860
num of homozygotes: 126

QD
type: SiteQuality
SIO_000300: 2.431e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

MQ
type: SiteQuality
SIO_000300: 5.866e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

DP
type: SiteQuality
SIO_000300: 1.481517e6

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0