12-121444222-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121444222
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121444222
    reference: chr 12
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.150-25A>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.146-25A>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000502891
  gene symbol: C12orf43
  hgvsc: ENST00000502891.2:n.811A>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.288-25A>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*146-25A>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.288-25A>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.294-25A>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.288-25A>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.198-25A>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.291-25A>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.99-25A>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.162-25A>C
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

12-121444227-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121444227
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121444227
    reference: chr 12
allele count: 7
allele frequency: 5.768153202149049e-5
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.162-30T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.146-30T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.198-30T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.291-30T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.288-30T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000502891
  gene symbol: C12orf43
  hgvsc: ENST00000502891.2:n.806T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.294-30T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.288-30T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.99-30T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.288-30T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.150-30T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*146-30T>C
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9269
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9821
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

12-121444228-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121444228
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121444228
    reference: chr 12
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.291-31A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.294-31A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.288-31A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.146-31A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.198-31A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.162-31A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.99-31A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.150-31A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.288-31A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*146-31A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000502891
  gene symbol: C12orf43
  hgvsc: ENST00000502891.2:n.805A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.288-31A>G
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-121444229-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121444229
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121444229
    reference: chr 12
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.288-32C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.288-32C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.146-32C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.198-32C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.150-32C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*146-32C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.162-32C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.288-32C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000502891
  gene symbol: C12orf43
  hgvsc: ENST00000502891.2:n.804C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.99-32C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.291-32C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.294-32C>T
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-121444240-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121444240
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121444240
    reference: chr 12
allele count: 2
allele frequency: 1.648804616652927e-5
allele num: 121300
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.146-43T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.291-43T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.294-43T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.288-43T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000502891
  gene symbol: C12orf43
  hgvsc: ENST00000502891.2:n.793T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.288-43T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.162-43T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.150-43T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*146-43T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.198-43T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.99-43T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.288-43T>C
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9486
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

12-121444242-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121444242
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121444242
    reference: chr 12
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.99-45T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*146-45T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.162-45T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.288-45T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.288-45T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.294-45T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.291-45T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.198-45T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.146-45T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000502891
  gene symbol: C12orf43
  hgvsc: ENST00000502891.2:n.791T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.288-45T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.150-45T>C
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5877
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS

http://identifiers.org/exac.variant/12-121444244-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121444244
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121444244
    reference: chr 12
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000502891
  gene symbol: C12orf43
  hgvsc: ENST00000502891.2:n.789G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.294-47G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.288-47G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.198-47G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.146-47G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.288-47G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.288-47G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*146-47G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.150-47G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.99-47G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.291-47G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.162-47G>T
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9192
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9131
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

12-121444245-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121444245
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121444245
    reference: chr 12
allele count: 23
allele frequency: 1.896969796941755e-4
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.150-48C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000502891
  gene symbol: C12orf43
  hgvsc: ENST00000502891.2:n.788C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.146-48C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.99-48C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.288-48C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.198-48C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.288-48C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.288-48C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.294-48C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.291-48C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*146-48C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.162-48C>T
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5877
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9082
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9120
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
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: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/12-121444249-AAAAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121444249
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121444245
    reference: chr 12
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.294-56_294-53delGTTT
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.150-56_150-53delGTTT
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.162-56_162-53delGTTT
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.288-56_288-53delGTTT
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.99-56_99-53delGTTT
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*146-56_*146-53delGTTT
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000502891
  gene symbol: C12orf43
  hgvsc: ENST00000502891.2:n.780_783delGTTT
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.291-56_291-53delGTTT
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.146-56_146-53delGTTT
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.288-56_288-53delGTTT
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.198-56_198-53delGTTT
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.288-56_288-53delGTTT
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: AAAAC
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum

12-121448583-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448583
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448583
    reference: chr 12
allele count: 2
allele frequency: 1.652346331791144e-5
allele num: 121040
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.149+48A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.293+48A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.161+48A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*145+48A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.145+48A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.287+48A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.287+48A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+324A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.287+48A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.197+48A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.290+48A>G
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7692
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3815
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-121448592-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448592
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448592
    reference: chr 12
allele count: 3
allele frequency: 2.478232854759033e-5
allele num: 121054
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.287+39A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.287+39A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.197+39A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.287+39A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.293+39A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.145+39A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.161+39A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*145+39A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+315A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.149+39A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.290+39A>G
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5968
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8736
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ

12-121448597-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448597
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448597
    reference: chr 12
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.149+34T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.161+34T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.145+34T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+310T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.287+34T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.290+34T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.287+34T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.293+34T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.287+34T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*145+34T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.197+34T>C
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum

12-121448605-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448605
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448605
    reference: chr 12
allele count: 1
allele frequency: 8.24905548314718e-6
allele num: 121226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.145+26T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.149+26T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+302T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.293+26T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.197+26T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.287+26T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.287+26T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.161+26T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.287+26T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.290+26T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*145+26T>C
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9061
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

12-121448632-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448632
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448632
    reference: chr 12
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.196A>T
  hgvsp: ENSP00000409788.2:p.Ser66Cys
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.286A>T
  hgvsp: ENSP00000437546.2:p.Ser96Cys
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.144A>T
  hgvsp: ENSP00000443642.1:p.Ser49Cys
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.292A>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*144A>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.286A>T
  hgvsp: ENSP00000437803.1:p.Ser96Cys
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+275A>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.160A>T
  hgvsp: ENSP00000444399.1:p.Ser54Cys
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.289A>T
  hgvsp: ENSP00000442224.1:p.Ser97Cys
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.286A>T
  hgvsp: ENSP00000288757.3:p.Ser96Cys
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.148A>T
  hgvsp: ENSP00000438856.1:p.Ser50Cys
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser96Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

12-121448633-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448633
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448633
    reference: chr 12
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.159C>T
  hgvsp: ENST00000366211.2:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.291C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.288C>T
  hgvsp: ENST00000537817.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.285C>T
  hgvsp: ENST00000536407.2:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.143C>T
  hgvsp: ENST00000546272.1:c.143C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+274C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.195C>T
  hgvsp: ENST00000445832.3:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.147C>T
  hgvsp: ENST00000535367.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.285C>T
  hgvsp: ENST00000288757.3:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*143C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.285C>T
  hgvsp: ENST00000539736.1:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.285C>T
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

12-121448638-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448638
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448638
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.138C>T
  hgvsp: ENST00000546272.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.154C>T
  hgvsp: ENST00000366211.2:c.154C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.286C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.280C>T
  hgvsp: ENST00000536407.2:c.280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.283C>T
  hgvsp: ENST00000537817.1:c.283C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.280C>T
  hgvsp: ENST00000288757.3:c.280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.280C>T
  hgvsp: ENST00000539736.1:c.280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.142C>T
  hgvsp: ENST00000535367.1:c.142C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+269C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.190C>T
  hgvsp: ENST00000445832.3:c.190C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*138C>T
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu94Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

12-121448641-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448641
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448641
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.135C>T
  hgvsp: ENST00000546272.1:c.135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+266C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.277C>T
  hgvsp: ENST00000536407.2:c.277C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*135C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.151C>T
  hgvsp: ENST00000366211.2:c.151C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.280C>T
  hgvsp: ENST00000537817.1:c.280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.277C>T
  hgvsp: ENST00000288757.3:c.277C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.187C>T
  hgvsp: ENST00000445832.3:c.187C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.277C>T
  hgvsp: ENST00000539736.1:c.277C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.283C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.139C>T
  hgvsp: ENST00000535367.1:c.139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu93Leu
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-121448660-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448660
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448660
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.258A>G
  hgvsp: ENST00000539736.1:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.258A>G
  hgvsp: ENST00000536407.2:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.264A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.116A>G
  hgvsp: ENST00000546272.1:c.116A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.168A>G
  hgvsp: ENST00000445832.3:c.168A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.261A>G
  hgvsp: ENST00000537817.1:c.261A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.120A>G
  hgvsp: ENST00000535367.1:c.120A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.258A>G
  hgvsp: ENST00000288757.3:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*116A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.132A>G
  hgvsp: ENST00000366211.2:c.132A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+247A>G
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val86Val
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

12-121448662-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448662
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448662
    reference: chr 12
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.256G>A
  hgvsp: ENSP00000437803.1:p.Val86Ile
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.130G>A
  hgvsp: ENSP00000444399.1:p.Val44Ile
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.118G>A
  hgvsp: ENSP00000438856.1:p.Val40Ile
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.262G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.114G>A
  hgvsp: ENSP00000443642.1:p.Val39Ile
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.256G>A
  hgvsp: ENSP00000288757.3:p.Val86Ile
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.256G>A
  hgvsp: ENSP00000437546.2:p.Val86Ile
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+245G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*114G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.166G>A
  hgvsp: ENSP00000409788.2:p.Val56Ile
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.259G>A
  hgvsp: ENSP00000442224.1:p.Val87Ile
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val86Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

12-121448663-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448663
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448663
    reference: chr 12
allele count: 4
allele frequency: 3.294567258590584e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.255C>T
  hgvsp: ENST00000539736.1:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.255C>T
  hgvsp: ENST00000288757.3:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.113C>T
  hgvsp: ENST00000546272.1:c.113C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.255C>T
  hgvsp: ENST00000536407.2:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*113C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.165C>T
  hgvsp: ENST00000445832.3:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+244C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.129C>T
  hgvsp: ENST00000366211.2:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.258C>T
  hgvsp: ENST00000537817.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.261C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.117C>T
  hgvsp: ENST00000535367.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His85His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

12-121448671-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448671
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448671
    reference: chr 12
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+236C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.253C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*105C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.109C>T
  hgvsp: ENSP00000438856.1:p.Arg37Ter
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.247C>T
  hgvsp: ENSP00000437546.2:p.Arg83Ter
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.247C>T
  hgvsp: ENSP00000437803.1:p.Arg83Ter
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.157C>T
  hgvsp: ENSP00000409788.2:p.Arg53Ter
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.105C>T
  hgvsp: ENSP00000443642.1:p.Arg36Ter
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.247C>T
  hgvsp: ENSP00000288757.3:p.Arg83Ter
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.121C>T
  hgvsp: ENSP00000444399.1:p.Arg41Ter
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.250C>T
  hgvsp: ENSP00000442224.1:p.Arg84Ter
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg83Ter
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-121448679-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448679
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448679
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.239C>T
  hgvsp: ENSP00000437546.2:p.Pro80Leu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.242C>T
  hgvsp: ENSP00000442224.1:p.Pro81Leu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.149C>T
  hgvsp: ENSP00000409788.2:p.Pro50Leu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.97C>T
  hgvsp: ENSP00000443642.1:p.Pro33Leu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.101C>T
  hgvsp: ENSP00000438856.1:p.Pro34Leu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.239C>T
  hgvsp: ENSP00000288757.3:p.Pro80Leu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+228C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*97C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.239C>T
  hgvsp: ENSP00000437803.1:p.Pro80Leu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.245C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.113C>T
  hgvsp: ENSP00000444399.1:p.Pro38Leu
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro80Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

12-121448680-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448680
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448680
    reference: chr 12
allele count: 7
allele frequency: 5.765492702533522e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+227C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.96C>T
  hgvsp: ENSP00000443642.1:p.Pro33Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.100C>T
  hgvsp: ENSP00000438856.1:p.Pro34Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.238C>T
  hgvsp: ENSP00000288757.3:p.Pro80Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.238C>T
  hgvsp: ENSP00000437546.2:p.Pro80Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.148C>T
  hgvsp: ENSP00000409788.2:p.Pro50Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*96C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.238C>T
  hgvsp: ENSP00000437803.1:p.Pro80Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.112C>T
  hgvsp: ENSP00000444399.1:p.Pro38Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.241C>T
  hgvsp: ENSP00000442224.1:p.Pro81Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.244C>T
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Pro80Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-121448681-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448681
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448681
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+226C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.237C>T
  hgvsp: ENST00000539736.1:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.147C>T
  hgvsp: ENST00000445832.3:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.99C>T
  hgvsp: ENST00000535367.1:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.237C>T
  hgvsp: ENST00000288757.3:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.95C>T
  hgvsp: ENST00000546272.1:c.95C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.111C>T
  hgvsp: ENST00000366211.2:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.237C>T
  hgvsp: ENST00000536407.2:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*95C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.243C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.240C>T
  hgvsp: ENST00000537817.1:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10065
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr79Thr
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

12-121448695-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448695
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448695
    reference: chr 12
allele count: 5
allele frequency: 4.118276912939626e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.223G>A
  hgvsp: ENSP00000437803.1:p.Glu75Lys
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.133G>A
  hgvsp: ENSP00000409788.2:p.Glu45Lys
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.229G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.223G>A
  hgvsp: ENSP00000437546.2:p.Glu75Lys
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.81G>A
  hgvsp: ENSP00000443642.1:p.Glu28Lys
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.226G>A
  hgvsp: ENSP00000442224.1:p.Glu76Lys
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+212G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.85G>A
  hgvsp: ENSP00000438856.1:p.Glu29Lys
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.223G>A
  hgvsp: ENSP00000288757.3:p.Glu75Lys
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*81G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.97G>A
  hgvsp: ENSP00000444399.1:p.Glu33Lys
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu75Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

12-121448696-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448696
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448696
    reference: chr 12
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.96C>T
  hgvsp: ENST00000366211.2:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.222C>T
  hgvsp: ENST00000288757.3:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.222C>T
  hgvsp: ENST00000539736.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+211C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*80C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.225C>T
  hgvsp: ENST00000537817.1:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.222C>T
  hgvsp: ENST00000536407.2:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.228C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.80C>T
  hgvsp: ENST00000546272.1:c.80C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.84C>T
  hgvsp: ENST00000535367.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.132C>T
  hgvsp: ENST00000445832.3:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asn74Asn
num of homozygotes: 1
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

12-121448697-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448697
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448697
    reference: chr 12
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*79A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.95A>G
  hgvsp: ENSP00000444399.1:p.Asn32Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.221A>G
  hgvsp: ENSP00000437546.2:p.Asn74Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.131A>G
  hgvsp: ENSP00000409788.2:p.Asn44Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.79A>G
  hgvsp: ENSP00000443642.1:p.Asn27Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.221A>G
  hgvsp: ENSP00000288757.3:p.Asn74Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.227A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.83A>G
  hgvsp: ENSP00000438856.1:p.Asn28Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.224A>G
  hgvsp: ENSP00000442224.1:p.Asn75Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.221A>G
  hgvsp: ENSP00000437803.1:p.Asn74Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+210A>G
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn74Ser
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

12-121448702-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448702
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448702
    reference: chr 12
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.90T>A
  hgvsp: ENSP00000444399.1:p.Asp30Glu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*74T>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.74T>A
  hgvsp: ENSP00000443642.1:p.Asp25Glu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.216T>A
  hgvsp: ENSP00000437546.2:p.Asp72Glu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.216T>A
  hgvsp: ENSP00000288757.3:p.Asp72Glu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.78T>A
  hgvsp: ENSP00000438856.1:p.Asp26Glu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.222T>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.219T>A
  hgvsp: ENSP00000442224.1:p.Asp73Glu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.126T>A
  hgvsp: ENSP00000409788.2:p.Asp42Glu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+205T>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.216T>A
  hgvsp: ENSP00000437803.1:p.Asp72Glu
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10066
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp72Glu
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-121448732-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448732
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448732
    reference: chr 12
allele count: 14
allele frequency: 1.153117535623095e-4
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.99-3T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.47-3T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.189-3T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*47-3T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.195-3T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.189-3T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.192-3T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+175T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.189-3T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.51-3T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.63-3T>C
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.189-3T>C
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

12-121448733-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448733
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448733
    reference: chr 12
allele count: 8
allele frequency: 6.589243060703402e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.51-4G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.47-4G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*47-4G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+174G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.195-4G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.99-4G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.63-4G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.189-4G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.189-4G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.192-4G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.189-4G>A
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.189-4G>A
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-121448734-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448734
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448734
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.51-5C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.189-5C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.195-5C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.47-5C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.189-5C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+173C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.189-5C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*47-5C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.63-5C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.99-5C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.192-5C>T
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.189-5C>T
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

12-121448738-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448738
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448738
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.189-9G>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.195-9G>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.99-9G>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.63-9G>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.189-9G>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*47-9G>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.51-9G>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+169G>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.189-9G>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.47-9G>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.192-9G>C
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3862
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/12-121448743-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448743
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448743
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+164T>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.192-14T>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.47-14T>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.99-14T>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.195-14T>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.51-14T>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.189-14T>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.189-14T>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.189-14T>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*47-14T>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.63-14T>G
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4380
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/12-121448749-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448749
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448749
    reference: chr 12
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.51-20T>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.195-20T>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.189-20T>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.47-20T>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.192-20T>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.99-20T>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.189-20T>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.189-20T>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+158T>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*47-20T>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.63-20T>G
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

12-121448750-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448750
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448750
    reference: chr 12
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*47-21G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.189-21G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.192-21G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.47-21G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.63-21G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.51-21G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.195-21G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.189-21G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+157G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.189-21G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.99-21G>A
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9203
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS

12-121448759-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448759
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448759
    reference: chr 12
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.99-30G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.189-30G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.189-30G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.189-30G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.47-30G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.195-30G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+148G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.51-30G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.63-30G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*47-30G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.192-30G>A
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-121448762-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448762
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448762
    reference: chr 12
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.51-33G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.189-33G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.47-33G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.99-33G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.189-33G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*47-33G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.189-33G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.63-33G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+145G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.192-33G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.195-33G>A
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

12-121448764-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448764
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448764
    reference: chr 12
allele count: 5
allele frequency: 4.119159032491926e-5
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.189-35G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+143G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.189-35G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.189-35G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.99-35G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*47-35G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.47-35G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.195-35G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.192-35G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.51-35G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.63-35G>A
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10078
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

12-121448765-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448765
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448765
    reference: chr 12
allele count: 14
allele frequency: 1.153345525843178e-4
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.189-36C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.189-36C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.63-36C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.47-36C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.195-36C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.189-36C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.99-36C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+142C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.192-36C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*47-36C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.51-36C>T
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9198
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

12-121448783-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448783
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448783
    reference: chr 12
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.99-54A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.189-54A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+124A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.63-54A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*46+31A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.47-54A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.189-54A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.189-54A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.191+31A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.51-54A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.195-54A>G
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3851
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-121448798-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448798
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448798
    reference: chr 12
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.47-69A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*46+16A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+109A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.51-69A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.189-69A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.195-69A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.189-69A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.63-69A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.189-69A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.99-69A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.191+16A>G
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

12-121448799-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448799
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448799
    reference: chr 12
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.189-70C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.47-70C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.189-70C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.63-70C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.189-70C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+108C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.191+15C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.195-70C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.51-70C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.99-70C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*46+15C>T
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

12-121448803-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448803
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448803
    reference: chr 12
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.195-74C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+104C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.63-74C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.189-74C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*46+11C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.99-74C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.51-74C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.47-74C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.189-74C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.191+11C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.189-74C>T
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

12-121448828-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448828
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448828
    reference: chr 12
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.194+79G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+79G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.177G>A
  hgvsp: ENST00000537817.1:c.177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.62+79G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*32G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.50+79G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.188+79G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.188+79G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.46+79G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.188+79G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.98+79G>A
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr59Thr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-121448829-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448829
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448829
    reference: chr 12
allele count: 2
allele frequency: 1.648695881557688e-5
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*31C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.98+78C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.188+78C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+78C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.188+78C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.188+78C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.176C>T
  hgvsp: ENSP00000442224.1:p.Thr59Met
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.194+78C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.50+78C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.46+78C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.62+78C>T
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9241
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10123
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr59Met
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/12-121448835-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448835
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448835
    reference: chr 12
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.50+72G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.170G>T
  hgvsp: ENSP00000442224.1:p.Gly57Val
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.62+72G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.98+72G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+72G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*25G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.188+72G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.46+72G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.188+72G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.194+72G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.188+72G>T
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly57Val
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

12-121448836-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448836
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448836
    reference: chr 12
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.188+71G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.194+71G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.169G>A
  hgvsp: ENSP00000442224.1:p.Gly57Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+71G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.98+71G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.62+71G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.50+71G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.188+71G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*24G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.188+71G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.46+71G>A
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly57Ser
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-121448840-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448840
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448840
    reference: chr 12
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.62+67G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.188+67G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.46+67G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.165G>T
  hgvsp: ENSP00000442224.1:p.Met55Ile
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.98+67G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.188+67G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*20G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.194+67G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.188+67G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.50+67G>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+67G>T
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met55Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP

12-121448849-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448849
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448849
    reference: chr 12
allele count: 6
allele frequency: 4.943723942455053e-5
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.188+58G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.188+58G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*11G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.46+58G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.194+58G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.62+58G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.188+58G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.50+58G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+58G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.156G>A
  hgvsp: ENST00000537817.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.98+58G>A
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10202
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val52Val
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

12-121448851-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448851
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448851
    reference: chr 12
allele count: 311
allele frequency: 2.562412457773749e-3
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.188+56G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.62+56G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.46+56G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.154G>A
  hgvsp: ENSP00000442224.1:p.Val52Met
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.194+56G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*9G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.188+56G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.98+56G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.50+56G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.188+56G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+56G>A
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 5.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 10171
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 5869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 9248
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 6.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 4.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 9.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 5.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val52Met
num of homozygotes: 6
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-121448852-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448852
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448852
    reference: chr 12
allele count: 4
allele frequency: 3.295653033648617e-5
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.188+55C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.62+55C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*8C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.153C>T
  hgvsp: ENST00000537817.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+55C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.50+55C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.194+55C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.98+55C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.188+55C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.46+55C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.188+55C>T
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys51Cys
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

12-121448853-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448853
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448853
    reference: chr 12
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.62+54G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.50+54G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.188+54G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*7G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.188+54G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.194+54G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+54G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.98+54G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.152G>A
  hgvsp: ENSP00000442224.1:p.Cys51Tyr
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.46+54G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.188+54G>A
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7750
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys51Tyr
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

12-121448854-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448854
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448854
    reference: chr 12
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.98+53T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.194+53T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.188+53T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*6T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.188+53T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.151T>C
  hgvsp: ENSP00000442224.1:p.Cys51Arg
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+53T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.46+53T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.62+53T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.188+53T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.50+53T>C
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys51Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

12-121448858-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448858
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448858
    reference: chr 12
allele count: 3
allele frequency: 2.47137325974133e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.147C>T
  hgvsp: ENST00000537817.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.62+49C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.188+49C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.194+49C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.*2C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.46+49C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.188+49C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.98+49C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+49C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.188+49C>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.50+49C>T
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7759
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile49Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

12-121448866-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448866
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448866
    reference: chr 12
allele count: 15
allele frequency: 1.2356255560315e-4
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.50+41A>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.46+41A>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.188+41A>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.62+41A>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.188+41A>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.188+41A>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.174A>T
  hgvsp: ENSP00000439393.1:p.Lys58Asn
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.139A>T
  hgvsp: ENSP00000442224.1:p.Ile47Leu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+41A>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.194+41A>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.98+41A>T
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5643
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile47Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

12-121448866-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448866
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448866
    reference: chr 12
allele count: 7
allele frequency: 5.766252594813668e-5
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.188+41A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.46+41A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.188+41A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.174A>G
  hgvsp: ENST00000539088.1:c.174A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.50+41A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.188+41A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.139A>G
  hgvsp: ENSP00000442224.1:p.Ile47Val
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.62+41A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.98+41A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+41A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.194+41A>G
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile47Val
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

12-121448874-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448874
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448874
    reference: chr 12
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.188+33T>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.46+33T>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.188+33T>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.194+33T>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.62+33T>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.50+33T>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.131T>A
  hgvsp: ENSP00000442224.1:p.Ile44Asn
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.166T>A
  hgvsp: ENSP00000439393.1:p.Phe56Ile
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.98+33T>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.188+33T>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+33T>A
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9268
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7761
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3964
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile44Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-121448876-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448876
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448876
    reference: chr 12
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+31T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.194+31T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.188+31T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.188+31T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.188+31T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.62+31T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.98+31T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.164T>C
  hgvsp: ENSP00000439393.1:p.Leu55Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.129T>C
  hgvsp: ENST00000537817.1:c.129T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.46+31T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.50+31T>C
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7761
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu55Ser
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

12-121448889-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448889
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448889
    reference: chr 12
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.98+18T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.188+18T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+18T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.188+18T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.46+18T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.116T>C
  hgvsp: ENSP00000442224.1:p.Val39Ala
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.151T>C
  hgvsp: ENSP00000439393.1:p.Phe51Leu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.62+18T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.188+18T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.50+18T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.194+18T>C
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7760
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9285
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val39Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

12-121448893-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448893
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448893
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.188+14T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.50+14T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.46+14T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.188+14T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.147T>C
  hgvsp: ENST00000539088.1:c.147T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.194+14T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+14T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.112T>C
  hgvsp: ENSP00000442224.1:p.Trp38Arg
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.98+14T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.62+14T>C
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.188+14T>C
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7760
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Trp38Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-121448897-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448897
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448897
    reference: chr 12
allele count: 5
allele frequency: 4.118276912939626e-5
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.62+10A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.188+10A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+10A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.46+10A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.188+10A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.143A>G
  hgvsp: ENSP00000439393.1:p.His48Arg
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.50+10A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.98+10A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.194+10A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.188+10A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.108A>G
  hgvsp: ENST00000537817.1:c.108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7760
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9273
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His48Arg
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

12-121448901-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448901
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448901
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.50+6A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.188+6A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.104A>G
  hgvsp: ENSP00000442224.1:p.Tyr35Cys
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.46+6A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.188+6A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.188+6A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.98+6A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.139A>G
  hgvsp: ENSP00000439393.1:p.Met47Val
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.62+6A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98+6A>G
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.194+6A>G
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3798
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9281
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr35Cys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

12-121448907-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448907
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448907
    reference: chr 12
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.98G>A
  hgvsp: ENSP00000442041.1:p.Ser33Asn
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.133G>A
  hgvsp: ENSP00000439393.1:p.Gly45Ser
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.188G>A
  hgvsp: ENSP00000437803.1:p.Arg63Lys
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.62G>A
  hgvsp: ENSP00000444399.1:p.Arg21Lys
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.50G>A
  hgvsp: ENSP00000438856.1:p.Arg17Lys
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.98G>A
  hgvsp: ENSP00000442224.1:p.Arg33Lys
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.188G>A
  hgvsp: ENSP00000437546.2:p.Arg63Lys
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.98G>A
  hgvsp: ENSP00000409788.2:p.Arg33Lys
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.46G>A
  hgvsp: ENSP00000443642.1:p.Arg16Lys
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.194G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.188G>A
  hgvsp: ENSP00000288757.3:p.Arg63Lys
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg63Lys
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

12-121448915-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448915
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448915
    reference: chr 12
allele count: 16
allele frequency: 1.31791374254555e-4
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.180G>A
  hgvsp: ENST00000539736.1:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.180G>A
  hgvsp: ENST00000288757.3:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.90G>A
  hgvsp: ENST00000538296.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.186G>A
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.90G>A
  hgvsp: ENST00000537817.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.42G>A
  hgvsp: ENST00000535367.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.125G>A
  hgvsp: ENSP00000439393.1:p.Arg42Gln
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.180G>A
  hgvsp: ENST00000536407.2:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.38G>A
  hgvsp: ENST00000546272.1:c.38G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.54G>A
  hgvsp: ENST00000366211.2:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.90G>A
  hgvsp: ENST00000445832.3:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7760
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 10214
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg42Gln
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

12-121448916-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448916
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448916
    reference: chr 12
allele count: 19
allele frequency: 1.565151490188971e-4
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.89C>T
  hgvsp: ENSP00000409788.2:p.Pro30Leu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.89C>T
  hgvsp: ENSP00000442041.1:p.Pro30Leu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.89C>T
  hgvsp: ENSP00000442224.1:p.Pro30Leu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.37C>T
  hgvsp: ENSP00000443642.1:p.Pro13Leu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.179C>T
  hgvsp: ENSP00000437803.1:p.Pro60Leu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.41C>T
  hgvsp: ENSP00000438856.1:p.Pro14Leu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.179C>T
  hgvsp: ENSP00000437546.2:p.Pro60Leu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.124C>T
  hgvsp: ENSP00000439393.1:p.Arg42Ter
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.179C>T
  hgvsp: ENSP00000288757.3:p.Pro60Leu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.53C>T
  hgvsp: ENSP00000444399.1:p.Pro18Leu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.185C>T
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Arg42Ter
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

12-121448918-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448918
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448918
    reference: chr 12
allele count: 464
allele frequency: 3.822264691829909e-3
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.39A>T
  hgvsp: ENSP00000438856.1:p.Gln13His
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.122A>T
  hgvsp: ENSP00000439393.1:p.Asn41Ile
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.35A>T
  hgvsp: ENSP00000443642.1:p.Gln12His
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.51A>T
  hgvsp: ENSP00000444399.1:p.Gln17His
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.177A>T
  hgvsp: ENSP00000437803.1:p.Gln59His
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.87A>T
  hgvsp: ENSP00000409788.2:p.Gln29His
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.183A>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.87A>T
  hgvsp: ENSP00000442041.1:p.Gln29His
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.177A>T
  hgvsp: ENSP00000288757.3:p.Gln59His
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.87A>T
  hgvsp: ENSP00000442224.1:p.Gln29His
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.177A>T
  hgvsp: ENSP00000437546.2:p.Gln59His
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3782
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5605
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10117
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9199
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 7709
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 9.75e1
  variant carriers: 309
genotype quality: GenotypeQuality
hgvs: p.Gln59His
num of homozygotes: 2
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

12-121448942-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448942
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448942
    reference: chr 12
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.153A>T
  hgvsp: ENST00000539736.1:c.153A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.98A>T
  hgvsp: ENSP00000439393.1:p.Gln33Leu
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.63A>T
  hgvsp: ENST00000538296.1:c.63A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.27A>T
  hgvsp: ENST00000366211.2:c.27A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.63A>T
  hgvsp: ENST00000445832.3:c.63A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.63A>T
  hgvsp: ENST00000537817.1:c.63A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.153A>T
  hgvsp: ENST00000536407.2:c.153A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.15A>T
  hgvsp: ENST00000535367.1:c.15A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.153A>T
  hgvsp: ENST00000288757.3:c.153A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.159A>T
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.11A>T
  hgvsp: ENST00000546272.1:c.11A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25719
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln33Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD

12-121448943-GCAGCAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121448943
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 121448937
    reference: chr 12
allele count: 2
allele frequency: 1.648559982854976e-5
allele num: 121318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442041
  ensembl transcript: ENST00000538296
  gene symbol: C12orf43
  hgvsc: ENST00000538296.1:c.56_61delGTGCTG
  hgvsp: ENSP00000442041.1:p.Gly19_Ala20del
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000444399
  ensembl transcript: ENST00000366211
  gene symbol: C12orf43
  hgvsc: ENST00000366211.2:c.20_25delGTGCTG
  hgvsp: ENSP00000444399.1:p.Gly7_Ala8del
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000442224
  ensembl transcript: ENST00000537817
  gene symbol: C12orf43
  hgvsc: ENST00000537817.1:c.56_61delGTGCTG
  hgvsp: ENSP00000442224.1:p.Gly19_Ala20del
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000288757
  ensembl transcript: ENST00000288757
  gene symbol: C12orf43
  hgvsc: ENST00000288757.3:c.146_151delGTGCTG
  hgvsp: ENSP00000288757.3:p.Gly49_Ala50del
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000409788
  ensembl transcript: ENST00000445832
  gene symbol: C12orf43
  hgvsc: ENST00000445832.3:c.56_61delGTGCTG
  hgvsp: ENSP00000409788.2:p.Gly19_Ala20del
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000438856
  ensembl transcript: ENST00000535367
  gene symbol: C12orf43
  hgvsc: ENST00000535367.1:c.8_13delGTGCTG
  hgvsp: ENSP00000438856.1:p.Gly3_Ala4del
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000439393
  ensembl transcript: ENST00000539088
  gene symbol: C12orf43
  hgvsc: ENST00000539088.1:c.91_96delGTGCTG
  hgvsp: ENSP00000439393.1:p.Val31_Leu32del
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437803
  ensembl transcript: ENST00000539736
  gene symbol: C12orf43
  hgvsc: ENST00000539736.1:c.146_151delGTGCTG
  hgvsp: ENSP00000437803.1:p.Gly49_Ala50del
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl transcript: ENST00000508193
  gene symbol: C12orf43
  hgvsc: ENST00000508193.2:n.152_157delGTGCTG
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000443642
  ensembl transcript: ENST00000546272
  gene symbol: C12orf43
  hgvsc: ENST00000546272.1:c.4_9delGTGCTG
  hgvsp: ENSP00000443642.1:p.Gly2_Ala3del
  variant of: http://identifiers.org/hgnc/25719
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000157895
  ensembl protein: ENSP00000437546
  ensembl transcript: ENST00000536407
  gene symbol: C12orf43
  hgvsc: ENST00000536407.2:c.146_151delGTGCTG
  hgvsp: ENSP00000437546.2:p.Gly49_Ala50del
  variant of: http://identifiers.org/hgnc/25719
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly49_Ala50del
num of homozygotes: 0
reference allele: GCAGCAC

GenotypeDepth
all individuals: 1267
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3947
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4153
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4150
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31524
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 43
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7457
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2466
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2411
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4277
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

DP
type: SiteQuality
SIO_000300: 2.820424e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.538e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
type: SiteQuality
SIO_000300: -3.491e-1

FS
type: SiteQuality
SIO_000300: 2.742e0

MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

QD
type: SiteQuality
SIO_000300: 1.572e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

GenotypeDepth
all individuals: 622
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2465
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4143
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7297
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 154
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 108
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3945
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4258
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4149
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2403
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31526
bin: 9.75e1
variant carriers: 7

African
type: Population
allele count: 7
allele frequency: 6.726888333653661e-4
allele num: 10406
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

FS
type: SiteQuality
SIO_000300: 1.901e0

DP
type: SiteQuality
SIO_000300: 2.818777e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

QD
type: SiteQuality
SIO_000300: 1.552e1

MQRankSum
type: SiteQuality
SIO_000300: 3.16e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

GenotypeDepth
all individuals: 1267
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4146
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7165
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4239
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31523
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3945
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2400
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4141
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2465
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.16e1

MQRankSum
type: SiteQuality
SIO_000300: -9.47e-1

FS
type: SiteQuality
SIO_000300: 8.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.936e-1

MQ
type: SiteQuality
SIO_000300: 5.876e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.385e0

DP
type: SiteQuality
SIO_000300: 2.817625e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

GenotypeDepth
all individuals: 838
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31521
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7026
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4140
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4144
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 93
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2396
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4215
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3947
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2465
bin: 8.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.572e0

QD
type: SiteQuality
SIO_000300: 1.351e1

DP
type: SiteQuality
SIO_000300: 2.816603e6

MQRankSum
type: SiteQuality
SIO_000300: 7.06e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 1.814e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

GenotypeDepth
all individuals: 1267
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variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5472
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999670036296008e-5
allele num: 66674
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.38e-1

FS
type: SiteQuality
SIO_000300: 1.719e0

MQ
type: SiteQuality
SIO_000300: 5.893e1

DP
type: SiteQuality
SIO_000300: 2.804109e6

MQRankSum
type: SiteQuality
SIO_000300: 8.66e-1

QD
type: SiteQuality
SIO_000300: 1.4e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.93e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4131
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.07e0

VQSLOD
type: SiteQuality
SIO_000300: 2.08e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.218e0

DP
type: SiteQuality
SIO_000300: 2.799863e6

QD
type: SiteQuality
SIO_000300: 1.505e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.147e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 21
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 398
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variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.102e0

DP
type: SiteQuality
SIO_000300: 2.799442e6

VQSLOD
type: SiteQuality
SIO_000300: -9.24e-2

BaseQRankSum
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SIO_000300: 4.93e0

QD
type: SiteQuality
SIO_000300: 1.519e1

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

GenotypeDepth
all individuals: 1651
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variant carriers: 0

GenotypeQuality
all individuals: 2459
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variant carriers: 0

GenotypeQuality
all individuals: 3736
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 913
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variant carriers: 0

GenotypeQuality
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variant carriers: 23

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4120
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GenotypeQuality
all individuals: 4657
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.000390050706592e-4
allele num: 66658
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.764e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

DP
type: SiteQuality
SIO_000300: 2.79821e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

QD
type: SiteQuality
SIO_000300: 1.288e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeDepth
all individuals: 3150
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
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variant carriers: 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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variant carriers: 0

GenotypeQuality
all individuals: 465
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2304
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variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

MQRankSum
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SIO_000300: -2.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.625e1

DP
type: SiteQuality
SIO_000300: 2.795373e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 222
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
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: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21256214380987e-4
allele num: 16494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 7.89e-1

DP
type: SiteQuality
SIO_000300: 2.450646e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.42e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8467
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.818622696411251e-4
allele num: 16496
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.85e-1

InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.460987e6

FS
type: SiteQuality
SIO_000300: 3.067e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.31e0

QD
type: SiteQuality
SIO_000300: 1.303e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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South Asian
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DP
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InbreedingCoeff
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MQ
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FS
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QD
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BaseQRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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allele num: 66738
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Other
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East Asian
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Latino
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African
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South Asian
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FS
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MQRankSum
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ClippingRankSum
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DP
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BaseQRankSum
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QD
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MQ
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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MQRankSum
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FS
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QD
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MQ
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DP
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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Other
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South Asian
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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DP
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FS
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QD
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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Other
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VQSLOD
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InbreedingCoeff
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FS
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DP
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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South Asian
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Other
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Latino
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VQSLOD
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ClippingRankSum
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DP
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MQ
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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FS
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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European (Non-Finnish)
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allele num: 66738
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Latino
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South Asian
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East Asian
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DP
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FS
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InbreedingCoeff
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ClippingRankSum
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MQ
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BaseQRankSum
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MQRankSum
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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Latino
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DP
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MQRankSum
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QD
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MQ
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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European (Non-Finnish)
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South Asian
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African
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European (Finnish)
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East Asian
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ClippingRankSum
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VQSLOD
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DP
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QD
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MQ
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InbreedingCoeff
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FS
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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Other
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Latino
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European (Non-Finnish)
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African
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East Asian
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MQ
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QD
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ReadPosRankSum
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DP
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FS
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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Latino
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VQSLOD
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QD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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MQ
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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Other
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European (Finnish)
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Latino
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African
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South Asian
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VQSLOD
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ClippingRankSum
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MQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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DP
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Latino
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South Asian
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VQSLOD
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DP
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MQRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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MQ
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FS
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

InbreedingCoeff
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SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.899e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.324e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.651e0

QD
type: SiteQuality
SIO_000300: 8.16e0

DP
type: SiteQuality
SIO_000300: 2.474166e6

GenotypeQuality
all individuals: 102
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3754
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

ReadPosRankSum
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SIO_000300: 1.33e0

MQRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.173e1

FS
type: SiteQuality
SIO_000300: 1.717e0

InbreedingCoeff
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SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 2.474211e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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QD
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VQSLOD
type: SiteQuality
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ClippingRankSum
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FS
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SIO_000300: 6.015e0

BaseQRankSum
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SIO_000300: -6.227e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 2.47415e6

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

South Asian
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allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.26e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.776e0

VQSLOD
type: SiteQuality
SIO_000300: 3.24e-1

DP
type: SiteQuality
SIO_000300: 2.477115e6

QD
type: SiteQuality
SIO_000300: 1.261e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.71e-1

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.504e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: 7.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

BaseQRankSum
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SIO_000300: -3.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.082e0

QD
type: SiteQuality
SIO_000300: 1.421e1

DP
type: SiteQuality
SIO_000300: 2.477674e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16510
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

Latino
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allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 16510
num of homozygotes: 0

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

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

Other
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European (Finnish)
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DP
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ReadPosRankSum
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MQRankSum
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MQ
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VQSLOD
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FS
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QD
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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Latino
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
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allele num: 66698
num of homozygotes: 0

Other
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South Asian
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QD
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MQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 30
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GenotypeQuality
all individuals: 3826
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 4
allele frequency: 3.844675124951942e-4
allele num: 10404
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: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.391e1

VQSLOD
type: SiteQuality
SIO_000300: 6.96e-1

DP
type: SiteQuality
SIO_000300: 2.482318e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.285e0

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.14e-1

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 304

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2691
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49667246237784e-5
allele num: 66716
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 286
allele frequency: 2.748414376321353e-2
allele num: 10406
num of homozygotes: 6

Latino
type: Population
allele count: 20
allele frequency: 1.728608470181504e-3
allele num: 11570
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.74e0

QD
type: SiteQuality
SIO_000300: 1.509e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.72e-2

DP
type: SiteQuality
SIO_000300: 2.492427e6

MQ
type: SiteQuality
SIO_000300: 5.983e1

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-2

GenotypeQuality
all individuals: 30
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 30286
bin: 9.75e1
variant carriers: 4

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.696e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

DP
type: SiteQuality
SIO_000300: 2.487223e6

QD
type: SiteQuality
SIO_000300: 1.319e1

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

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8995
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2690
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4364
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3895
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.9e-2

DP
type: SiteQuality
SIO_000300: 2.487325e6

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.114e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.09e-1

QD
type: SiteQuality
SIO_000300: 1.266e1

GenotypeQuality
all individuals: 9015
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

DP
type: SiteQuality
SIO_000300: 2.487634e6

MQ
type: SiteQuality
SIO_000300: 5.925e1

VQSLOD
type: SiteQuality
SIO_000300: 4.55e-1

QD
type: SiteQuality
SIO_000300: 1.254e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-2

FS
type: SiteQuality
SIO_000300: 5.516e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.503e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

GenotypeQuality
all individuals: 2700
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.65e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.215e0

MQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

DP
type: SiteQuality
SIO_000300: 2.488265e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.98e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 15

GenotypeQuality
all individuals: 3964
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 13
allele frequency: 7.873062015503876e-4
allele num: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996973057212216e-5
allele num: 66734
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

DP
type: SiteQuality
SIO_000300: 2.489449e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 1.919e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

QD
type: SiteQuality
SIO_000300: 1.386e1

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 30325
bin: 9.75e1
variant carriers: 7

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 3912
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 4.804920238324044e-4
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 1.919e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

QD
type: SiteQuality
SIO_000300: 1.386e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 2.489449e6

MQRankSum
type: SiteQuality
SIO_000300: 4.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2709
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
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SIO_000300: -1.0e-4

QD
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SIO_000300: 9.6e0

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-2

DP
type: SiteQuality
SIO_000300: 2.489416e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.489503e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

QD
type: SiteQuality
SIO_000300: 1.639e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.34e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.26e-1

MQ
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SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e0

QD
type: SiteQuality
SIO_000300: 1.28e1

DP
type: SiteQuality
SIO_000300: 2.489687e6

MQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.04e0

VQSLOD
type: SiteQuality
SIO_000300: 4.86e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.814e-1

BaseQRankSum
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MQRankSum
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DP
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SIO_000300: 2.489673e6

InbreedingCoeff
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.119e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.48e-1

ReadPosRankSum
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SIO_000300: 1.08e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

African
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allele count: 5
allele frequency: 4.804920238324044e-4
allele num: 10406
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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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 (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.73e-1

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

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

European (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: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
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allele num: 66738
num of homozygotes: 0

African
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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DP
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FS
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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GenotypeDepth
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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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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9034
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 30333
bin: 9.75e1
variant carriers: 16

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4372
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3839
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3966
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2516
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2704
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.648335181466719e-4
allele num: 66734
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.04e-1

DP
type: SiteQuality
SIO_000300: 2.490675e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.263e1

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.85e-1

FS
type: SiteQuality
SIO_000300: 5.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeDepth
all individuals: 1645
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3911
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3837
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2513
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9026
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2701
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30343
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4364
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3962
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 19
allele frequency: 2.196024040684235e-3
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

MQRankSum
type: SiteQuality
SIO_000300: -2.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

DP
type: SiteQuality
SIO_000300: 2.491218e6

MQ
type: SiteQuality
SIO_000300: 5.946e1

GenotypeDepth
all individuals: 289
bin: 9.25e1
variant carriers: 25

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

GenotypeQuality
all individuals: 3927
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3803
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2679
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30563
bin: 9.75e1
variant carriers: 462

GenotypeQuality
all individuals: 4328
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8987
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2497
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3882
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 27
allele frequency: 1.635174418604651e-3
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.153846153846154e-3
allele num: 10400
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 12
allele frequency: 1.814333232537043e-3
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 48
allele frequency: 4.145793746761098e-3
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 361
allele frequency: 5.409860632399221e-3
allele num: 66730
num of homozygotes: 2

Other
type: Population
allele count: 4
allele frequency: 4.405286343612335e-3
allele num: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.71e0

QD
type: SiteQuality
SIO_000300: 1.232e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.64e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

DP
type: SiteQuality
SIO_000300: 2.524486e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.56e-1

GenotypeDepth
all individuals: 1170
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2685
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3809
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 100
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8940
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3919
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4316
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3883
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30480
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2495
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -3.929e-1

DP
type: SiteQuality
SIO_000300: 2.502343e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQRankSum
type: SiteQuality
SIO_000300: -1.339e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.09e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.137e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.131e1